Variant report

Variant	rs528189076
Chromosome Location	chr7:100025618-100025619
allele	A/C
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	SP4	chr7:100025612-100027744	H1-hESC	embryonic stem cell:	n/a	chr7:100026919-100026935 chr7:100026492-100026503 chr7:100026838-100026854
4	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
5	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
6	NR2F2	chr7:100025392-100028801	K562	blood:	n/a	n/a
7	SP4	chr7:100025566-100027287	H1-hESC	embryonic stem cell:	n/a	chr7:100026919-100026935 chr7:100026492-100026503 chr7:100026838-100026854
8	ELF1	chr7:100025584-100027755	MCF-7	breast:	n/a	chr7:100026064-100026076
9	GABPA	chr7:100025594-100026347	A549	lung:	n/a	chr7:100025940-100025954 chr7:100025940-100025951 chr7:100025940-100025949 chr7:100025942-100025951
10	CTCF	chr7:100025600-100025750	AG10803	skin:	n/a	n/a
11	RCOR1	chr7:100025435-100027542	K562	blood:	n/a	n/a
12	MAX	chr7:100025321-100028257	HCT-116	colon:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
13	CEBPD	chr7:100025553-100028942	K562	blood:	n/a	n/a
14	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
15	MAX	chr7:100025597-100028390	NB4	blood:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
16	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
17	SIN3AK20	chr7:100025402-100028703	MCF-7	breast:	n/a	n/a
18	TCF12	chr7:100025539-100028164	ECC-1	luminal epithelium:	n/a	n/a
19	PML	chr7:100025465-100028661	GM12878	blood:	n/a	n/a
20	TCF12	chr7:100025590-100027354	A549	lung:	n/a	n/a
21	NFIC	chr7:100025574-100028406	GM12878	blood:	n/a	n/a
22	MAX	chr7:100025422-100028282	MCF-7	breast:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
23	MAX	chr7:100025473-100028014	HepG2	liver:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
24	E2F6	chr7:100025581-100026585	Hela-S3	cervix:	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	chr7:100025600-100028679	MCF-7	breast:	n/a	n/a
26	MAX	chr7:100025402-100026665	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr7:100025407-100028224	A549	lung:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
28	POLR2A	chr7:100025534-100028072	U87	brain:	n/a	n/a
29	YY1	chr7:100025583-100028153	K562	blood:	n/a	chr7:100026924-100026933 chr7:100026063-100026072 chr7:100026064-100026078 chr7:100027646-100027658 chr7:100025990-100026000 chr7:100025991-100025999 chr7:100026063-100026077 chr7:100026069-100026078 chr7:100026067-100026078
30	BCLAF1	chr7:100025618-100028091	K562	blood:	n/a	chr7:100026065-100026078 chr7:100025818-100025831 chr7:100026063-100026076 chr7:100026739-100026748
31	ELF1	chr7:100025428-100028963	GM12878	blood:	n/a	chr7:100026064-100026076
32	POLR2A	chr7:100025594-100032122	HL-60	blood:	n/a	n/a
33	NR2F2	chr7:100025565-100028227	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:100025520-100025670	AG09319	gingival:	n/a	n/a
35	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
36	POLR2A	chr7:100025512-100027789	HL-60	blood:	n/a	n/a
37	TEAD4	chr7:100025559-100028213	K562	blood:	n/a	n/a
38	ZNF263	chr7:100025618-100026063	HEK293-T-REx	kidney:	n/a	n/a
39	POLR2A	chr7:100025552-100034611	GM12892	blood:	n/a	n/a
40	MAX	chr7:100025419-100027788	H1-hESC	embryonic stem cell:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
41	ELF1	chr7:100025535-100028349	MCF-7	breast:	n/a	chr7:100026064-100026076
42	POLR2A	chr7:100025520-100028569	HUVEC	blood vessel:	n/a	n/a
43	CREB1	chr7:100025609-100028274	HepG2	liver:	n/a	n/a
44	POLR2A	chr7:100025487-100032082	GM12878	blood:	n/a	n/a
45	TEAD4	chr7:100025510-100027703	K562	blood:	n/a	n/a
46	MAZ	chr7:100025595-100028793	IMR90	lung:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
47	HCFC1	chr7:100025291-100027869	Hela-S3	cervix:	n/a	n/a
48	KAP1	chr7:100025496-100026133	K562	blood:	n/a	n/a
49	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
50	ARID3A	chr7:100025603-100027132	K562	blood:	n/a	chr7:100025862-100025870

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	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
40	chr7:100025492..100028279-chr7:100180739..100182375,3	MCF-7	breast:
41	chr7:99723158..99726590-chr7:100025016..100029006,5	K562	blood:
42	chr7:100025401..100028370-chr7:100464359..100466273,3	K562	blood:
43	chr7:99717030..99721378-chr7:100025256..100028946,7	MCF-7	breast:
44	chr7:100005884..100007386-chr7:100025487..100027604,2	MCF-7	breast:
45	chr7:99723171..99726242-chr7:100025216..100028355,4	MCF-7	breast:
46	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
47	chr7:99515753..99518653-chr7:100025054..100026663,2	K562	blood:
48	chr7:100025389..100027922-chr7:100449017..100452017,3	K562	blood:
49	chr7:100025223..100027930-chr7:100471250..100474138,3	MCF-7	breast:
50	chr7:99715831..99718860-chr7:100025422..100028791,5	K562	blood:

Variant related genes	Relation type
MEPCE	TF binding region
ENSG00000172354	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000078319	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000198498	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106333	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:100011600-100026000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:100025200-100026000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:100025400-100025800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:100025400-100025800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:100025400-100025800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100025400-100025800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:100025400-100025800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:100025400-100025800	Flanking Active TSS	Liver	Liver
10	chr7:100025400-100025800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr7:100025400-100025800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr7:100025400-100025800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr7:100025400-100025800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:100025400-100025800	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr7:100025400-100025800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:100025400-100025800	Enhancers	Esophagus	oesophagus
17	chr7:100025400-100025800	Flanking Active TSS	Fetal Heart	heart
18	chr7:100025400-100025800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:100025400-100025800	Flanking Active TSS	Psoas Muscle	Psoas
20	chr7:100025400-100025800	Flanking Active TSS	A549	lung
21	chr7:100025400-100025800	Enhancers	K562	blood
22	chr7:100025400-100025800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:100025400-100026000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr7:100025400-100026000	Enhancers	Primary B cells from cord blood	blood
25	chr7:100025400-100026000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:100025400-100026000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:100025400-100026000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:100025400-100026000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr7:100025400-100026000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:100025400-100026000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:100025400-100026000	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr7:100025400-100026000	Flanking Active TSS	Placenta	Placenta
33	chr7:100025400-100026000	Enhancers	Fetal Thymus	thymus
34	chr7:100025400-100026000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:100025400-100026000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:100025400-100026000	Flanking Active TSS	Dnd41	blood
37	chr7:100025400-100026000	Flanking Active TSS	HSMMtube	muscle
38	chr7:100025400-100026000	Flanking Active TSS	Osteobl	bone
39	chr7:100025400-100026200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:100025400-100026200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:100025400-100026800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr7:100025400-100028200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:100025400-100028200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:100025400-100028200	Active TSS	Brain Germinal Matrix	brain
45	chr7:100025400-100028200	Active TSS	Fetal Brain Female	brain
46	chr7:100025400-100028200	Active TSS	Rectal Smooth Muscle	rectum
47	chr7:100025400-100028600	Active TSS	Fetal Kidney	kidney
48	chr7:100025400-100028800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100025600-100025800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:100025600-100025800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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