Variant report

Variant	rs538414264
Chromosome Location	chr7:98029731-98029732
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	CHD2	chr7:98029512-98030870	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr7:98029672-98030959	IMR90	lung:	n/a	n/a
3	E2F6	chr7:98029681-98030713	K562	blood:	n/a	chr7:98030187-98030198
4	ZBTB7A	chr7:98028969-98030490	ECC-1	luminal epithelium:	n/a	n/a
5	SP1	chr7:98029618-98030105	A549	lung:	n/a	n/a
6	ZNF143	chr7:98029726-98029942	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr7:98029057-98030904	K562	blood:	n/a	n/a
8	POLR2A	chr7:98029691-98030575	K562	blood:	n/a	n/a
9	ZBTB7A	chr7:98029019-98030980	ECC-1	luminal epithelium:	n/a	chr7:98030579-98030587 chr7:98030639-98030648
10	POLR2A	chr7:98029212-98030742	Hela-S3	cervix:	n/a	n/a
11	MAX	chr7:98029544-98031012	A549	lung:	n/a	n/a
12	POLR2A	chr7:98029706-98030845	PANC-1	pancreas:	n/a	n/a
13	MAX	chr7:98029715-98030898	A549	lung:	n/a	n/a
14	MAZ	chr7:98029679-98030778	HepG2	liver:	n/a	n/a
15	E2F4	chr7:98029692-98029963	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr7:98029662-98030878	A549	lung:	n/a	n/a
17	TAF1	chr7:98029687-98030804	ECC-1	luminal epithelium:	n/a	n/a
18	MAZ	chr7:98028972-98030827	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:98029693-98029839	A549	lung:	n/a	n/a
20	SP1	chr7:98029590-98030942	A549	lung:	n/a	chr7:98030592-98030601 chr7:98030590-98030602 chr7:98030590-98030601 chr7:98030590-98030602 chr7:98030591-98030601 chr7:98030534-98030545 chr7:98030591-98030600 chr7:98030592-98030601 chr7:98030558-98030568 chr7:98030558-98030568 chr7:98030591-98030601
21	TCF12	chr7:98029161-98030950	A549	lung:	n/a	n/a
22	ZNF263	chr7:98027990-98030837	HEK293-T-REx	kidney:	n/a	chr7:98029248-98029257 chr7:98030014-98030035
23	MAZ	chr7:98029677-98030823	Hela-S3	cervix:	n/a	n/a
24	ZNF263	chr7:98029674-98030378	K562	blood:	n/a	chr7:98030014-98030035
25	POLR2A	chr7:98029678-98030580	K562	blood:	n/a	n/a
26	SETDB1	chr7:98029427-98030388	K562	blood:	n/a	n/a
27	POLR2A	chr7:98029683-98029851	A549	lung:	n/a	n/a
28	MAX	chr7:98029658-98030879	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:98029298-98030829	PANC-1	pancreas:	n/a	n/a
30	ZBTB7A	chr7:98029670-98031000	K562	blood:	n/a	chr7:98030579-98030587 chr7:98030639-98030648

No.	Distal block	Cell Line	Cell type
1	chr7:97948846..97953573-chr7:98026962..98031463,6	MCF-7	breast:
2	chr7:97501305..97502999-chr7:98028998..98030520,2	K562	blood:
3	chr7:98028301..98030360-chr7:98475060..98477669,2	K562	blood:
4	chr7:97948534..97953392-chr7:98027922..98031084,5	MCF-7	breast:
5	chr7:98015865..98017595-chr7:98028896..98031691,2	MCF-7	breast:
6	chr7:98028440..98031404-chr7:98475727..98477431,2	MCF-7	breast:
7	chr7:97851992..97854043-chr7:98027877..98030619,2	K562	blood:

Variant related genes	Relation type
BAIAP2L1	TF binding region
ENSG00000214389	Chromatin interaction
ENSG00000070669	Chromatin interaction
ENSG00000205356	Chromatin interaction
ENSG00000272950	Chromatin interaction
ENSG00000196367	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv888766	chr7:97975542-98123880	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv1795864	chr7:98013507-98040788	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv607919	chr7:98021211-98124854	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	nsv539034	chr7:98029119-98106260	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv3405212	chr7:98029241-98031789	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv20115	chr7:98029489-98030050	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98027600-98030600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:98027800-98030400	Active TSS	Fetal Intestine Small	intestine
3	chr7:98027800-98030400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:98027800-98030400	Active TSS	Stomach Mucosa	stomach
5	chr7:98027800-98030800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:98027800-98031000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:98028000-98030000	Active TSS	Colonic Mucosa	Colon
8	chr7:98028000-98031000	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:98028400-98030000	Active TSS	Fetal Intestine Large	intestine
10	chr7:98028400-98030600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:98028400-98030600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:98028400-98030600	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:98028400-98030600	Active TSS	HMEC	breast
14	chr7:98028400-98030800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:98028400-98030800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:98028400-98030800	Active TSS	A549	lung
17	chr7:98028600-98030400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:98028600-98030400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:98028600-98030400	Active TSS	NHEK	skin
20	chr7:98028600-98030800	Active TSS	HepG2	liver
21	chr7:98028600-98030800	Active TSS	K562	blood
22	chr7:98028600-98031000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:98028600-98031000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:98028600-98031000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:98028800-98030800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:98028800-98031000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:98028800-98031000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:98029000-98029800	Active TSS	Right Atrium	heart
29	chr7:98029000-98030000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:98029000-98030000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:98029000-98030000	Active TSS	Psoas Muscle	Psoas
32	chr7:98029000-98030200	Active TSS	Fetal Kidney	kidney
33	chr7:98029000-98030600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:98029000-98030600	Active TSS	Esophagus	oesophagus
35	chr7:98029000-98030800	Active TSS	Hela-S3	cervix
36	chr7:98029000-98031000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:98029200-98029800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr7:98029200-98029800	Enhancers	HSMMtube	muscle
39	chr7:98029200-98030000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr7:98029200-98030000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:98029200-98030000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:98029200-98030000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr7:98029200-98030000	Enhancers	Spleen	Spleen
44	chr7:98029200-98030200	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr7:98029200-98030400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:98029200-98030400	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr7:98029200-98030400	Active TSS	Gastric	stomach
48	chr7:98029200-98030400	Active TSS	Lung	lung
49	chr7:98029200-98030600	Active TSS	Right Ventricle	heart
50	chr7:98029200-98030600	Active TSS	Small Intestine	intestine

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