Variant report

Variant	rs75133638
Chromosome Location	chr7:98030026-98030027
allele	C/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	YY1	chr7:98029914-98030474	GM12892	blood:	n/a	chr7:98030411-98030425
2	ZEB1	chr7:98029847-98030881	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:98029887-98030498	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr7:98029867-98030532	H1-hESC	embryonic stem cell:	n/a	chr7:98030187-98030198
5	POLR2A	chr7:98030010-98030544	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD2	chr7:98029512-98030870	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr7:98029672-98030959	IMR90	lung:	n/a	n/a
8	SIN3AK20	chr7:98029872-98030466	PANC-1	pancreas:	n/a	n/a
9	E2F6	chr7:98029681-98030713	K562	blood:	n/a	chr7:98030187-98030198
10	ZNF143	chr7:98029844-98030842	GM12878	blood:	n/a	n/a
11	ZBTB7A	chr7:98028969-98030490	ECC-1	luminal epithelium:	n/a	n/a
12	SP1	chr7:98029618-98030105	A549	lung:	n/a	n/a
13	POLR2A	chr7:98029883-98030705	H1-hESC	embryonic stem cell:	n/a	n/a
14	HDAC2	chr7:98029885-98030960	MCF-7	breast:	n/a	n/a
15	ZEB1	chr7:98029952-98030718	GM12878	blood:	n/a	n/a
16	MYC	chr7:98029989-98030387	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:98029733-98030724	Hela-S3	cervix:	n/a	n/a
18	YY1	chr7:98029974-98030753	GM12891	blood:	n/a	chr7:98030411-98030425
19	CUX1	chr7:98029905-98030092	GM12878	blood:	n/a	n/a
20	MAZ	chr7:98029057-98030904	K562	blood:	n/a	n/a
21	CHD2	chr7:98029855-98030718	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:98029691-98030575	K562	blood:	n/a	n/a
23	MXI1	chr7:98029874-98031023	IMR90	lung:	n/a	n/a
24	MAX	chr7:98030023-98030771	K562	blood:	n/a	n/a
25	RAD21	chr7:98029888-98031369	SK-N-SH	brain:	n/a	n/a
26	E2F6	chr7:98029838-98030434	H1-hESC	embryonic stem cell:	n/a	chr7:98030187-98030198
27	MAX	chr7:98029894-98030825	K562	blood:	n/a	n/a
28	EGR1	chr7:98029886-98030772	K562	blood:	n/a	chr7:98029972-98029986 chr7:98030531-98030545 chr7:98030003-98030017
29	E2F6	chr7:98029924-98030550	K562	blood:	n/a	chr7:98030187-98030198
30	POLR2A	chr7:98029872-98030486	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:98029805-98030574	K562	blood:	n/a	n/a
32	MAX	chr7:98029741-98030924	ECC-1	luminal epithelium:	n/a	n/a
33	BCL3	chr7:98029874-98030259	GM12878	blood:	n/a	n/a
34	MAX	chr7:98029873-98030723	A549	lung:	n/a	n/a
35	ELF1	chr7:98029918-98030870	GM12878	blood:	n/a	chr7:98030095-98030107
36	RUNX3	chr7:98029906-98030877	GM12878	blood:	n/a	n/a
37	REST	chr7:98030012-98030483	K562	blood:	n/a	n/a
38	RELA	chr7:98029875-98030208	GM19099	blood:	n/a	n/a
39	GABPA	chr7:98030010-98030910	K562	blood:	n/a	chr7:98030411-98030420 chr7:98030591-98030600
40	YY1	chr7:98030019-98030246	HepG2	liver:	n/a	n/a
41	MXI1	chr7:98029987-98030875	HepG2	liver:	n/a	n/a
42	NR2F2	chr7:98029761-98030942	MCF-7	breast:	n/a	n/a
43	SIN3A	chr7:98029999-98030813	H1-hESC	embryonic stem cell:	n/a	chr7:98030800-98030813
44	POLR2A	chr7:98029824-98030796	HCT-116	colon:	n/a	n/a
45	POLR2A	chr7:98029852-98030279	GM12892	blood:	n/a	n/a
46	FOXM1	chr7:98029805-98030205	GM12878	blood:	n/a	n/a
47	E2F4	chr7:98029764-98030763	K562	blood:	n/a	chr7:98030036-98030047
48	BCL3	chr7:98029764-98030361	A549	lung:	n/a	n/a
49	POLR2A	chr7:98029913-98030501	GM12878	blood:	n/a	n/a
50	BCL3	chr7:98029781-98030232	A549	lung:	n/a	n/a

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:
8	chr7:97880638..97884180-chr7:98029742..98031678,3	MCF-7	breast:

Variant related genes	Relation type
BAIAP2L1	TF binding region
ENSG00000070669	Chromatin interaction
ENSG00000196367	Chromatin interaction
ENSG00000205356	Chromatin interaction
ENSG00000272950	Chromatin interaction
ENSG00000214389	Chromatin interaction
ENSG00000164713	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:124 , 50 per page) page: 1 2 3

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	chr7:98028000-98031000	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:98028400-98030600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:98028400-98030600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:98028400-98030600	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:98028400-98030600	Active TSS	HMEC	breast
12	chr7:98028400-98030800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:98028400-98030800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr7:98028400-98030800	Active TSS	A549	lung
15	chr7:98028600-98030400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:98028600-98030400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:98028600-98030400	Active TSS	NHEK	skin
18	chr7:98028600-98030800	Active TSS	HepG2	liver
19	chr7:98028600-98030800	Active TSS	K562	blood
20	chr7:98028600-98031000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:98028600-98031000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:98028600-98031000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:98028800-98030800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:98028800-98031000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:98028800-98031000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr7:98029000-98030200	Active TSS	Fetal Kidney	kidney
27	chr7:98029000-98030600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:98029000-98030600	Active TSS	Esophagus	oesophagus
29	chr7:98029000-98030800	Active TSS	Hela-S3	cervix
30	chr7:98029000-98031000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:98029200-98030200	Bivalent/Poised TSS	Fetal Thymus	thymus
32	chr7:98029200-98030400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:98029200-98030400	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr7:98029200-98030400	Active TSS	Gastric	stomach
35	chr7:98029200-98030400	Active TSS	Lung	lung
36	chr7:98029200-98030600	Active TSS	Right Ventricle	heart
37	chr7:98029200-98030600	Active TSS	Small Intestine	intestine
38	chr7:98029200-98030800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:98029200-98031000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:98029400-98030400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:98029400-98030400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:98029400-98030600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:98029400-98030600	Active TSS	Pancreas	Pancrea
44	chr7:98029400-98030800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:98029400-98030800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:98029400-98030800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:98029400-98030800	Active TSS	NHLF	lung
48	chr7:98029400-98031000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:98029400-98031000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:98029400-98031000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links