Variant report

Variant	rs564121596
Chromosome Location	chr7:100025576-100025577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:100025267-100027710	H1-hESC	embryonic stem cell:	n/a	chr7:100025863-100025870 chr7:100026011-100026025 chr7:100025863-100025870 chr7:100027410-100027419 chr7:100025861-100025872 chr7:100025862-100025871 chr7:100025941-100025950 chr7:100027323-100027332 chr7:100026924-100026933 chr7:100025862-100025870 chr7:100025862-100025874 chr7:100025863-100025870
2	PAX5	chr7:100025547-100028145	GM12878	blood:	n/a	chr7:100027410-100027419 chr7:100027366-100027375
3	GABPA	chr7:100025566-100028962	K562	blood:	n/a	chr7:100027409-100027420 chr7:100027319-100027333 chr7:100025940-100025954 chr7:100027322-100027331 chr7:100027322-100027336 chr7:100025940-100025951 chr7:100027409-100027423 chr7:100027322-100027333 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
4	GABPA	chr7:100025468-100027226	SK-N-SH	brain:	n/a	chr7:100025940-100025954 chr7:100025940-100025951 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
5	NR2F2	chr7:100025392-100028801	K562	blood:	n/a	n/a
6	SP4	chr7:100025566-100027287	H1-hESC	embryonic stem cell:	n/a	chr7:100026919-100026935 chr7:100026492-100026503 chr7:100026838-100026854
7	RCOR1	chr7:100025435-100027542	K562	blood:	n/a	n/a
8	MAX	chr7:100025321-100028257	HCT-116	colon:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
9	CEBPD	chr7:100025553-100028942	K562	blood:	n/a	n/a
10	GABPA	chr7:100025503-100027620	MCF-7	breast:	n/a	chr7:100027409-100027420 chr7:100027319-100027333 chr7:100025940-100025954 chr7:100027322-100027331 chr7:100027322-100027336 chr7:100025940-100025951 chr7:100027409-100027423 chr7:100027322-100027333 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
11	SP1	chr7:100025543-100027789	A549	lung:	n/a	chr7:100026925-100026934 chr7:100026923-100026935 chr7:100026924-100026934 chr7:100026919-100026932 chr7:100026841-100026851 chr7:100026841-100026850 chr7:100026920-100026934 chr7:100026842-100026851 chr7:100026841-100026855 chr7:100027559-100027573 chr7:100026840-100026852 chr7:100026820-100026832 chr7:100026492-100026503 chr7:100026924-100026933 chr7:100026821-100026830 chr7:100026841-100026850 chr7:100026820-100026832 chr7:100026841-100026851 chr7:100026925-100026934 chr7:100026923-100026935 chr7:100026924-100026934 chr7:100026840-100026852
12	SIN3AK20	chr7:100025402-100028703	MCF-7	breast:	n/a	n/a
13	TCF12	chr7:100025539-100028164	ECC-1	luminal epithelium:	n/a	n/a
14	PML	chr7:100025465-100028661	GM12878	blood:	n/a	n/a
15	NFIC	chr7:100025574-100028406	GM12878	blood:	n/a	n/a
16	MAX	chr7:100025422-100028282	MCF-7	breast:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
17	MAX	chr7:100025473-100028014	HepG2	liver:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
18	MAX	chr7:100025402-100026665	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr7:100025407-100028224	A549	lung:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
20	POLR2A	chr7:100025534-100028072	U87	brain:	n/a	n/a
21	ELF1	chr7:100025428-100028963	GM12878	blood:	n/a	chr7:100026064-100026076
22	NR2F2	chr7:100025565-100028227	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:100025520-100025670	AG09319	gingival:	n/a	n/a
24	E2F6	chr7:100025461-100026087	K562	blood:	n/a	chr7:100025863-100025870 chr7:100026011-100026025 chr7:100025863-100025870 chr7:100025861-100025872 chr7:100025862-100025871 chr7:100025941-100025950 chr7:100025862-100025870 chr7:100025862-100025874 chr7:100025863-100025870
25	POLR2A	chr7:100025512-100027789	HL-60	blood:	n/a	n/a
26	TEAD4	chr7:100025559-100028213	K562	blood:	n/a	n/a
27	POLR2A	chr7:100025552-100034611	GM12892	blood:	n/a	n/a
28	MAX	chr7:100025419-100027788	H1-hESC	embryonic stem cell:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
29	ELF1	chr7:100025535-100028349	MCF-7	breast:	n/a	chr7:100026064-100026076
30	POLR2A	chr7:100025520-100028569	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr7:100025487-100032082	GM12878	blood:	n/a	n/a
32	TEAD4	chr7:100025510-100027703	K562	blood:	n/a	n/a
33	HCFC1	chr7:100025291-100027869	Hela-S3	cervix:	n/a	n/a
34	KAP1	chr7:100025496-100026133	K562	blood:	n/a	n/a
35	E2F6	chr7:100025383-100026464	H1-hESC	embryonic stem cell:	n/a	chr7:100025863-100025870 chr7:100026011-100026025 chr7:100025863-100025870 chr7:100025861-100025872 chr7:100025862-100025871 chr7:100025941-100025950 chr7:100025862-100025870 chr7:100025862-100025874 chr7:100025863-100025870
36	POLR2A	chr7:100025516-100034612	SK-N-MC	brain:	n/a	n/a
37	SIX5	chr7:100025367-100027450	A549	lung:	n/a	chr7:100026024-100026033 chr7:100026041-100026057 chr7:100026020-100026034 chr7:100026022-100026031 chr7:100026019-100026028
38	MAX	chr7:100025419-100029161	K562	blood:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
39	TRIM28	chr7:100025550-100028400	K562	blood:	n/a	n/a
40	MYBL2	chr7:100025572-100027848	HepG2	liver:	n/a	n/a
41	CHD1	chr7:100025436-100028825	IMR90	lung:	n/a	chr7:100026925-100026935
42	EP300	chr7:100025542-100027935	ECC-1	luminal epithelium:	n/a	chr7:100026065-100026074 chr7:100027232-100027248 chr7:100025906-100025922
43	NRF1	chr7:100025323-100029124	SK-N-SH	brain:	n/a	chr7:100027409-100027420 chr7:100026982-100026993 chr7:100027319-100027333 chr7:100025940-100025954 chr7:100027322-100027331 chr7:100025940-100025951 chr7:100027322-100027336 chr7:100025940-100025951 chr7:100027409-100027423 chr7:100027322-100027333 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
44	CBX3	chr7:100025288-100027711	K562	blood:	n/a	n/a
45	REST	chr7:100025417-100028054	A549	lung:	n/a	chr7:100025959-100025966
46	MAZ	chr7:100025466-100028583	GM12878	blood:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
47	POLR2A	chr7:100025567-100028181	HUVEC	blood vessel:	n/a	n/a
48	ELF1	chr7:100025576-100028498	GM12878	blood:	n/a	chr7:100026064-100026076
49	BCL3	chr7:100025545-100027842	A549	lung:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
50	SP1	chr7:100025545-100027726	A549	lung:	n/a	chr7:100026925-100026934 chr7:100026923-100026935 chr7:100026924-100026934 chr7:100026919-100026932 chr7:100026841-100026851 chr7:100026841-100026850 chr7:100026920-100026934 chr7:100026842-100026851 chr7:100026841-100026855 chr7:100027559-100027573 chr7:100026840-100026852 chr7:100026820-100026832 chr7:100026492-100026503 chr7:100026924-100026933 chr7:100026821-100026830 chr7:100026841-100026850 chr7:100026820-100026832 chr7:100026841-100026851 chr7:100026925-100026934 chr7:100026923-100026935 chr7:100026924-100026934 chr7:100026840-100026852

No.	Distal block	Cell Line	Cell type
1	chr7:100024810..100029555-chr7:100269638..100276218,15	K562	blood:
2	chr7:100025040..100027512-chr7:100201980..100203554,3	K562	blood:
3	chr7:100024854..100029212-chr7:100238393..100241596,5	K562	blood:
4	chr7:100025071..100027924-chr7:100727777..100730095,3	K562	blood:
5	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
6	chr7:100024644..100031194-chr7:100062394..100068680,9	K562	blood:
7	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:
8	chr7:99743864..99749368-chr7:100025322..100029105,6	K562	blood:
9	chr7:100025569..100027511-chr7:100253508..100255447,2	K562	blood:
10	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
11	chr7:100025231..100027840-chr7:100303669..100306614,3	K562	blood:
12	chr4:164413226..164415880-chr7:100024994..100026878,2	MCF-7	breast:
13	chr7:99753605..99756389-chr7:100024404..100026585,2	MCF-7	breast:
14	chr7:100025375..100027426-chr7:100270912..100272757,2	K562	blood:
15	chr7:99695452..99699124-chr7:100025277..100027831,3	MCF-7	breast:
16	chr7:99697437..99703178-chr7:100024624..100029482,10	K562	blood:
17	chr7:100025223..100026949-chr7:104653159..104655060,2	MCF-7	breast:
18	chr7:100009272..100011233-chr7:100024353..100026026,2	MCF-7	breast:
19	chr1:11967024..11970880-chr7:100024808..100027879,3	K562	blood:
20	chr7:100024823..100028490-chr7:100199635..100204792,9	MCF-7	breast:
21	chr7:100004091..100007847-chr7:100024893..100029911,8	MCF-7	breast:
22	chr7:99744731..99747065-chr7:100025501..100027244,2	MCF-7	breast:
23	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
24	chr7:99696789..99700792-chr7:100024893..100031468,10	K562	blood:
25	chr7:100024969..100026513-chr7:100273974..100276218,2	MCF-7	breast:
26	chr7:100009832..100015861-chr7:100024427..100028524,9	MCF-7	breast:
27	chr7:99965641..99971124-chr7:100025245..100028820,5	MCF-7	breast:
28	chr7:100025163..100029050-chr7:100284721..100290800,5	MCF-7	breast:
29	chr7:100024988..100028445-chr7:100180808..100186978,10	K562	blood:
30	chr7:100024682..100026645-chr7:100273094..100274953,2	K562	blood:
31	chr7:100025040..100027312-chr7:100198003..100200781,2	K562	blood:
32	chr7:99939167..99940736-chr7:100025324..100028004,2	K562	blood:
33	chr7:99998688..100005691-chr7:100025198..100032529,13	K562	blood:
34	chr7:100024981..100028086-chr7:100074705..100078040,4	MCF-7	breast:
35	chr7:100023646..100028399-chr7:100166149..100169452,5	K562	blood:
36	chr7:100025394..100027753-chr7:100083399..100085639,3	MCF-7	breast:
37	chr7:100025040..100028858-chr7:100198464..100203953,10	K562	blood:
38	chr7:100025028..100029218-chr7:100206824..100213289,7	K562	blood:
39	chr7:100025492..100028279-chr7:100180739..100182375,3	MCF-7	breast:
40	chr7:99723158..99726590-chr7:100025016..100029006,5	K562	blood:
41	chr7:100025401..100028370-chr7:100464359..100466273,3	K562	blood:
42	chr7:99717030..99721378-chr7:100025256..100028946,7	MCF-7	breast:
43	chr7:100005884..100007386-chr7:100025487..100027604,2	MCF-7	breast:
44	chr7:99723171..99726242-chr7:100025216..100028355,4	MCF-7	breast:
45	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
46	chr7:99515753..99518653-chr7:100025054..100026663,2	K562	blood:
47	chr7:100025389..100027922-chr7:100449017..100452017,3	K562	blood:
48	chr7:100025223..100027930-chr7:100471250..100474138,3	MCF-7	breast:
49	chr7:99715831..99718860-chr7:100025422..100028791,5	K562	blood:
50	chr7:100016949..100019484-chr7:100023454..100025888,2	MCF-7	breast:

Variant related genes	Relation type
MEPCE	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000078319	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000198498	Chromatin interaction
ENSG00000146826	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	esv3329388	chr7:100023441-100025989	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	88 gene(s)	inside rSNPs	diseases
10	esv3330521	chr7:100023666-100025889	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
3	chr7:100011600-100026000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:100017600-100025600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:100017800-100025600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:100020400-100025600	Weak transcription	Fetal Lung	lung
7	chr7:100022200-100025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:100024600-100025600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:100024800-100025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:100024800-100025600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:100024800-100025600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:100024800-100025600	Weak transcription	HSMM	muscle
13	chr7:100025200-100026000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:100025400-100025600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:100025400-100025600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:100025400-100025600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:100025400-100025600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:100025400-100025600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:100025400-100025600	Enhancers	Primary B cells from peripheral blood	blood
20	chr7:100025400-100025600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:100025400-100025600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:100025400-100025600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:100025400-100025600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:100025400-100025600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:100025400-100025600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:100025400-100025600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:100025400-100025600	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr7:100025400-100025600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:100025400-100025600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:100025400-100025600	Enhancers	Fetal Brain Male	brain
31	chr7:100025400-100025600	Enhancers	Fetal Intestine Large	intestine
32	chr7:100025400-100025600	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:100025400-100025600	Enhancers	Fetal Muscle Leg	muscle
34	chr7:100025400-100025600	Enhancers	Fetal Stomach	stomach
35	chr7:100025400-100025600	Enhancers	Left Ventricle	heart
36	chr7:100025400-100025600	Enhancers	Lung	lung
37	chr7:100025400-100025600	Enhancers	Pancreas	Pancrea
38	chr7:100025400-100025600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr7:100025400-100025600	Active TSS	Right Atrium	heart
40	chr7:100025400-100025600	Enhancers	Right Ventricle	heart
41	chr7:100025400-100025600	Enhancers	Stomach Mucosa	stomach
42	chr7:100025400-100025600	Enhancers	Thymus	Thymus
43	chr7:100025400-100025600	Enhancers	GM12878-XiMat	blood
44	chr7:100025400-100025600	Enhancers	Hela-S3	cervix
45	chr7:100025400-100025600	Enhancers	HepG2	liver
46	chr7:100025400-100025600	Enhancers	HMEC	breast
47	chr7:100025400-100025600	Enhancers	NH-A	brain
48	chr7:100025400-100025600	Enhancers	NHDF-Ad	bronchial
49	chr7:100025400-100025800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:100025400-100025800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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