Variant report

Variant	rs11575259
Chromosome Location	chr7:50630057-50630058
allele	A/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	CTCF	chr7:50629914-50630063	MCF-7	breast:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
2	RAD21	chr7:50629812-50630143	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:50630040-50630314	K562	blood:	n/a	n/a
4	CTCF	chr7:50629911-50630107	MCF-7	breast:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
5	MAX	chr7:50629965-50630134	K562	blood:	n/a	chr7:50630010-50630020
6	CTCF	chr7:50629859-50630138	H1-hESC	embryonic stem cell:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
7	YY1	chr7:50629934-50630098	K562	blood:	n/a	n/a
8	CTCF	chr7:50629920-50630070	HepG2	liver:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
9	POLR2A	chr7:50629961-50630239	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:50629558-50630295	HepG2	liver:	n/a	n/a
11	MAX	chr7:50629777-50630288	HepG2	liver:	n/a	chr7:50630010-50630020
12	RAD21	chr7:50629814-50630127	HepG2	liver:	n/a	n/a
13	CTCF	chr7:50629813-50630148	K562	blood:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
14	CTCF	chr7:50629940-50630090	WERI-Rb-1	eye:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
15	CTCF	chr7:50629894-50630223	K562	blood:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
16	CTCF	chr7:50629920-50630070	HRE	kidney:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
17	MAX	chr7:50629794-50630234	H1-hESC	embryonic stem cell:	n/a	chr7:50630010-50630020
18	CTCF	chr7:50629917-50630082	K562	blood:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
19	MXI1	chr7:50624122-50630583	SK-N-SH	brain:	n/a	n/a
20	USF1	chr7:50629858-50630062	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr7:50629753-50630188	SK-N-SH_RA	brain:	n/a	chr7:50630171-50630184
22	CTCF	chr7:50629920-50630070	RPTEC	kidney:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
23	MYC	chr7:50629828-50630132	K562	blood:	n/a	chr7:50630010-50630020
24	CTCF	chr7:50630020-50630170	HPAF	blood vessel:	n/a	n/a
25	ZNF143	chr7:50629847-50630150	H1-hESC	embryonic stem cell:	n/a	chr7:50629986-50630004
26	CTCF	chr7:50629893-50630126	H1-hESC	embryonic stem cell:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
27	RAD21	chr7:50625784-50630691	SK-N-SH	brain:	n/a	chr7:50629522-50629536 chr7:50627827-50627837 chr7:50630171-50630184 chr7:50628902-50628912
28	MAX	chr7:50629817-50630157	K562	blood:	n/a	chr7:50630010-50630020
29	CTCF	chr7:50629920-50630070	SK-N-SH_RA	brain:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
30	USF1	chr7:50629881-50630102	HepG2	liver:	n/a	n/a
31	CTCF	chr7:50629940-50630090	BE2_C	brain:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
32	RAD21	chr7:50629786-50630265	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
33	RAD21	chr7:50629783-50630197	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
34	MAX	chr7:50629780-50630234	H1-hESC	embryonic stem cell:	n/a	chr7:50630010-50630020
35	CTCF	chr7:50629917-50630154	HepG2	liver:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
36	MAX	chr7:50629921-50630156	NB4	blood:	n/a	chr7:50630010-50630020
37	CTCF	chr7:50629959-50630069	MCF-7	breast:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
38	CTCF	chr7:50629980-50630130	AG04449	skin:	n/a	chr7:50629996-50630004
39	CTCF	chr7:50629920-50630070	HBMEC	blood vessel:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
40	CTCF	chr7:50629920-50630070	HRPEpiC	eye:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
41	THAP1	chr7:50629975-50630163	K562	blood:	n/a	n/a
42	RAD21	chr7:50629779-50630193	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
43	MYC	chr7:50629852-50630178	K562	blood:	n/a	chr7:50630010-50630020
44	MXI1	chr7:50629806-50630244	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11575392	1.00[YRI][hapmap]
rs11575451	1.00[YRI][hapmap]
rs11575483	1.00[YRI][hapmap]
rs11575492	1.00[YRI][hapmap]
rs11575550	1.00[YRI][hapmap]
rs6974148	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
3	chr7:50620800-50635600	Weak transcription	Lung	lung
4	chr7:50624600-50631800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:50626800-50631800	Weak transcription	Gastric	stomach
6	chr7:50626800-50632000	Weak transcription	Stomach Mucosa	stomach
7	chr7:50627800-50631600	Enhancers	Liver	Liver
8	chr7:50628200-50630400	Enhancers	Pancreas	Pancrea
9	chr7:50628600-50630200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:50628600-50630400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:50628600-50632000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:50628800-50630400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:50629400-50630800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr7:50629600-50630400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:50629600-50630800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
17	chr7:50629800-50630200	Enhancers	Spleen	Spleen
18	chr7:50629800-50630400	Flanking Active TSS	HepG2	liver
19	chr7:50630000-50630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:50630000-50630200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:50630000-50631000	Flanking Active TSS	Fetal Intestine Large	intestine

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