Variant report

Variant	rs6975767
Chromosome Location	chr7:50344474-50344475
allele	A/C/G/T
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	POLR2A	chr7:50343347-50345141	NB4	blood:	n/a	n/a
2	POLR2A	chr7:50343460-50344916	GM19099	blood:	n/a	n/a
3	POLR2A	chr7:50343654-50345433	HL-60	blood:	n/a	n/a
4	UBTF	chr7:50343511-50344911	K562	blood:	n/a	n/a
5	MAX	chr7:50343854-50344841	GM12878	blood:	n/a	n/a
6	CTCF	chr7:50344380-50344530	GM12866	blood:	n/a	n/a
7	MYC	chr7:50343335-50345459	K562	blood:	n/a	n/a
8	POLR2A	chr7:50343548-50344786	K562	blood:	n/a	n/a
9	CHD1	chr7:50344114-50345518	GM12878	blood:	n/a	chr7:50344206-50344216 chr7:50344413-50344423
10	POLR2A	chr7:50343782-50344750	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:50343682-50345250	GM10847	blood:	n/a	n/a
12	TAF1	chr7:50343869-50344531	K562	blood:	n/a	n/a
13	POLR2A	chr7:50343226-50345248	GM18951	blood:	n/a	n/a
14	POLR2A	chr7:50343402-50345359	GM18505	blood:	n/a	n/a
15	ELF1	chr7:50343883-50344537	GM12878	blood:	n/a	n/a
16	MYC	chr7:50343702-50345253	K562	blood:	n/a	n/a
17	YY1	chr7:50344468-50344900	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:50343479-50344532	GM12878	blood:	n/a	n/a
19	MTA3	chr7:50344043-50345400	GM12878	blood:	n/a	n/a
20	HMGN3	chr7:50342879-50344476	K562	blood:	n/a	n/a
21	GTF2B	chr7:50344304-50344730	K562	blood:	n/a	n/a
22	POLR2A	chr7:50343022-50344882	GM19193	blood:	n/a	n/a
23	BHLHE40	chr7:50343216-50344727	GM12878	blood:	n/a	chr7:50344200-50344216 chr7:50343966-50343982
24	SIN3A	chr7:50343975-50344785	H1-hESC	embryonic stem cell:	n/a	chr7:50344199-50344210
25	E2F6	chr7:50342898-50344783	K562	blood:	n/a	chr7:50343421-50343430 chr7:50344179-50344186 chr7:50344205-50344217 chr7:50344179-50344186 chr7:50344034-50344048 chr7:50344205-50344214 chr7:50344037-50344051 chr7:50344179-50344186
26	ZNF143	chr7:50343735-50344819	GM12878	blood:	n/a	n/a
27	MAX	chr7:50343279-50345435	NB4	blood:	n/a	n/a
28	CTCF	chr7:50344400-50344550	GM12868	blood:	n/a	n/a
29	RCOR1	chr7:50344313-50344746	K562	blood:	n/a	n/a
30	IRF1	chr7:50344237-50345095	K562	blood:	n/a	n/a
31	JUND	chr7:50343813-50344716	K562	blood:	n/a	chr7:50344261-50344273 chr7:50344527-50344539
32	E2F6	chr7:50344105-50344799	H1-hESC	embryonic stem cell:	n/a	chr7:50344179-50344186 chr7:50344205-50344217 chr7:50344179-50344186 chr7:50344205-50344214 chr7:50344179-50344186
33	POLR2A	chr7:50343733-50345349	PBDE	blood:	n/a	n/a
34	RCOR1	chr7:50343327-50344903	K562	blood:	n/a	n/a
35	CCNT2	chr7:50343268-50344769	K562	blood:	n/a	chr7:50343434-50343443 chr7:50344205-50344214
36	MAX	chr7:50343210-50344833	K562	blood:	n/a	n/a
37	BCLAF1	chr7:50343848-50344891	GM12878	blood:	n/a	chr7:50344405-50344418 chr7:50343972-50343985
38	EBF1	chr7:50343855-50344795	GM12878	blood:	n/a	n/a
39	RUNX3	chr7:50344102-50345482	GM12878	blood:	n/a	chr7:50345045-50345054 chr7:50345152-50345167
40	PML	chr7:50344113-50345475	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:50343403-50344502	K562	blood:	n/a	n/a
42	MXI1	chr7:50343756-50345335	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:50343357-50344764	K562	blood:	n/a	n/a
44	UBTF	chr7:50343242-50345311	K562	blood:	n/a	n/a
45	BHLHE40	chr7:50344167-50344836	K562	blood:	n/a	chr7:50344200-50344216
46	REST	chr7:50343999-50344921	HL-60	blood:	n/a	n/a
47	POLR2A	chr7:50343632-50344862	GM12892	blood:	n/a	n/a
48	ZBTB7A	chr7:50344238-50344479	K562	blood:	n/a	n/a
49	POLR2A	chr7:50343317-50344901	GM15510	blood:	n/a	n/a
50	POLR2A	chr7:50343739-50350920	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50344471-50344521	RPTEC	kidney:	n/a
2	chr7:50344471-50344521	AG09319	gingival:	n/a
3	chr7:50344471-50344521	HIPEpiC	eye:	n/a
4	chr7:50344471-50344521	HCM	heart:	n/a
5	chr7:50344471-50344521	GM12878	blood:	n/a
6	chr7:50344471-50344521	HUVEC	blood vessel:	n/a
7	chr7:50344471-50344521	SK-N-MC	brain:	n/a
8	chr7:50344471-50344521	HCT-116	colon:	n/a
9	chr7:50344471-50344521	NH-A	brain:	n/a
10	chr7:50344471-50344521	GM12892	blood:	n/a
11	chr7:50344471-50344521	SAEC	small airway:	n/a
12	chr7:50344471-50344521	T-47D	breast:	n/a
13	chr7:50344471-50344521	LNCaP	prostate:	n/a
14	chr7:50344471-50344521	HEK293	kidney:	embryo
15	chr7:50344471-50344521	GM12891	blood:	n/a
16	chr7:50344471-50344521	HRCEpiC	kidney:	n/a
17	chr7:50344471-50344521	AG04449	skin:	fetal
18	chr7:50344471-50344521	Caco-2	colon:	n/a
19	chr7:50344471-50344521	HEEpiC	esophagus:	n/a
20	chr7:50344471-50344521	Hela-S3	cervix:	n/a
21	chr7:50344471-50344521	ovcar-3	ovarian:	n/a
22	chr7:50344471-50344521	H1-hESC	embryonic stem cell:	embryo
23	chr7:50344471-50344521	GM19239	blood:	n/a
24	chr7:50344471-50344521	MCF-7	breast:	n/a
25	chr7:50344471-50344521	CMK	blood:	n/a
26	chr7:50344471-50344521	HRE	kidney:	n/a
27	chr7:50344471-50344521	HCPEpiC	choroid plexus:	n/a
28	chr7:50344471-50344521	A549	lung:	n/a
29	chr7:50344471-50344521	HNPCEpiC	eye:	n/a
30	chr7:50344471-50344521	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:50344471-50344521	PrEC	prostate:	n/a
32	chr7:50344471-50344521	HAEpiC	amniotic membrane:	n/a
33	chr7:50344471-50344521	HepG2	liver:	n/a
34	chr7:50344471-50344521	ECC-1	luminal epithelium:	n/a
35	chr7:50344471-50344521	HMEC	breast:	n/a
36	chr7:50344471-50344521	NT2-D1	testis:	n/a
37	chr7:50344471-50344521	HRPEpiC	eye:	n/a
38	chr7:50344471-50344521	U87	brain:	n/a
39	chr7:50344471-50344521	Hepatocyte	liver:	n/a
40	chr7:50344471-50344521	AG04450	lung:	fetal
41	chr7:50344471-50344521	AG10803	skin:	n/a
42	chr7:50344471-50344521	BJ	skin:	n/a
43	chr7:50344471-50344521	NHDF-neo	bronchial:	n/a
44	chr7:50344471-50344521	AG09309	skin:	n/a
45	chr7:50344471-50344521	PFSK-1	brain:	n/a
46	chr7:50344471-50344521	SKMC	muscle:	n/a
47	chr7:50344471-50344521	HCF	heart:	n/a
48	chr7:50344471-50344521	NHBE	bronchial:	n/a
49	chr7:50344471-50344521	HL-60	blood:	n/a
50	chr7:50344471-50344521	SK-N-SH_RA	brain:	n/a

Variant related genes	Relation type
IKZF1	TF binding region
IKZF1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10261758	0.85[ASN][1000 genomes]
rs17732473	0.91[ASN][1000 genomes]

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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3387620	chr7:50342756-50344804	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3322655	chr7:50342831-50345779	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1791747	chr7:50343238-50344544	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1792582	chr7:50343238-50344544	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1837115	chr7:50343238-50344544	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50342200-50344600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:50342600-50344600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:50342800-50344600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr7:50342800-50344600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:50342800-50344600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:50342800-50345000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:50342800-50345400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:50343000-50344800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:50343000-50344800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:50343000-50344800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr7:50343000-50345400	Active TSS	Brain Anterior Caudate	brain
13	chr7:50343000-50345400	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr7:50343000-50345400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr7:50343000-50346600	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr7:50343200-50344600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50343200-50344600	Active TSS	Esophagus	oesophagus
18	chr7:50343200-50344800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:50343200-50344800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:50343200-50344800	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr7:50343200-50345200	Active TSS	Duodenum Mucosa	Duodenum
22	chr7:50343200-50345200	Active TSS	Right Atrium	heart
23	chr7:50343200-50345400	Bivalent/Poised TSS	Small Intestine	intestine
24	chr7:50343200-50346400	Active TSS	Primary T cells from cord blood	blood
25	chr7:50343200-50346400	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:50343200-50347200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:50343200-50347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:50343200-50347600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:50343400-50344600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:50343400-50344600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:50343400-50344600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:50343400-50344600	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr7:50343400-50344600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:50343400-50344600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:50343400-50344600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
36	chr7:50343400-50345800	Active TSS	Primary B cells from cord blood	blood
37	chr7:50343400-50346200	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr7:50343400-50346400	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr7:50343400-50346400	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:50343400-50346600	Active TSS	Dnd41	blood
41	chr7:50343400-50347000	Active TSS	Primary T cells fromperipheralblood	blood
42	chr7:50343400-50347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:50343400-50347000	Active TSS	GM12878-XiMat	blood
44	chr7:50343400-50347200	Active TSS	Primary B cells from peripheral blood	blood
45	chr7:50343400-50347200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:50343400-50347400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:50343400-50347400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:50343400-50347400	Active TSS	Fetal Thymus	thymus
49	chr7:50343400-50347400	Active TSS	K562	blood
50	chr7:50343400-50347600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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