Variant report

Variant	rs534373592
Chromosome Location	chr7:26242936-26242937
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
2	TBL1XR1	chr7:26241898-26243028	K562	blood:	n/a	n/a
3	POLR2A	chr7:26237704-26243017	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26241874-26244447	K562	blood:	n/a	n/a
5	GATA3	chr7:26242773-26242968	SH-SY5Y	brain:	n/a	chr7:26242816-26242824
6	POLR2A	chr7:26241812-26243131	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
8	POLR2A	chr7:26237697-26244169	K562	blood:	n/a	n/a
9	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
10	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:26237713-26243157	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr7:26237673-26243114	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr7:26237920-26243061	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26242932-26242982	HRPEpiC	eye:	n/a
2	chr7:26242932-26242982	HRE	kidney:	n/a
3	chr7:26242932-26242982	Hela-S3	cervix:	n/a
4	chr7:26242932-26242982	GM06990	blood:	n/a
5	chr7:26242932-26242982	GM12892	blood:	n/a
6	chr7:26242932-26242982	HEK293	kidney:	embryo
7	chr7:26242932-26242982	HL-60	blood:	n/a
8	chr7:26242932-26242982	SK-N-MC	brain:	n/a
9	chr7:26242932-26242982	NH-A	brain:	n/a
10	chr7:26242932-26242982	RPTEC	kidney:	n/a
11	chr7:26242932-26242982	BJ	skin:	n/a
12	chr7:26242932-26242982	MCF10A-Er-Src	breast:	n/a
13	chr7:26242932-26242982	NHBE	bronchial:	n/a
14	chr7:26242932-26242982	HepG2	liver:	n/a
15	chr7:26242932-26242982	ECC-1	luminal epithelium:	n/a
16	chr7:26242932-26242982	IMR90	lung:	fetal
17	chr7:26242932-26242982	HAEpiC	amniotic membrane:	n/a
18	chr7:26242932-26242982	MCF-7	breast:	n/a
19	chr7:26242932-26242982	AG04450	lung:	fetal
20	chr7:26242932-26242982	NT2-D1	testis:	n/a
21	chr7:26242932-26242982	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:26242932-26242982	HCF	heart:	n/a
23	chr7:26242932-26242982	PrEC	prostate:	n/a
24	chr7:26242932-26242982	BE2_C	brain:	n/a
25	chr7:26242932-26242982	SAEC	small airway:	n/a
26	chr7:26242932-26242982	Caco-2	colon:	n/a
27	chr7:26242932-26242982	Hepatocyte	liver:	n/a
28	chr7:26242932-26242982	ProgFib	skin:	n/a
29	chr7:26242932-26242982	H1-hESC	embryonic stem cell:	embryo
30	chr7:26242932-26242982	Jurkat	blood:	n/a
31	chr7:26242932-26242982	GM12891	blood:	n/a
32	chr7:26242932-26242982	K562	blood:	n/a
33	chr7:26242932-26242982	SK-N-SH	brain:	n/a
34	chr7:26242932-26242982	U87	brain:	n/a
35	chr7:26242932-26242982	HEEpiC	esophagus:	n/a
36	chr7:26242932-26242982	AG10803	skin:	n/a
37	chr7:26242932-26242982	HUVEC	blood vessel:	n/a
38	chr7:26242932-26242982	ovcar-3	ovarian:	n/a
39	chr7:26242932-26242982	T-47D	breast:	n/a
40	chr7:26242932-26242982	HCPEpiC	choroid plexus:	n/a
41	chr7:26242932-26242982	NB4	blood:	n/a
42	chr7:26242932-26242982	PFSK-1	brain:	n/a
43	chr7:26242932-26242982	HRCEpiC	kidney:	n/a
44	chr7:26242932-26242982	PANC-1	pancreas:	n/a
45	chr7:26242932-26242982	LNCaP	prostate:	n/a
46	chr7:26242932-26242982	HNPCEpiC	eye:	n/a
47	chr7:26242932-26242982	GM12878	blood:	n/a
48	chr7:26242932-26242982	HMEC	breast:	n/a
49	chr7:26242932-26242982	HIPEpiC	eye:	n/a
50	chr7:26242932-26242982	NHDF-neo	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
2	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
3	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
4	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
5	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
6	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
HNRNPA2B1	CpG island
CBX3	CpG island
ENSG00000266430	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000212195	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
8	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
9	nsv606460	chr7:26239704-26243108	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	131 gene(s)	inside rSNPs	n/a
10	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
11	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
3	chr7:26237000-26243000	Active TSS	Ovary	ovary
4	chr7:26237000-26243600	Active TSS	Aorta	Aorta
5	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
8	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
10	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:26237200-26245000	Active TSS	Thymus	Thymus
12	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
16	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
17	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
18	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
19	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:26237600-26243000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:26237600-26243400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:26237600-26243400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:26237600-26243800	Active TSS	HSMMtube	muscle
26	chr7:26238000-26243000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:26238800-26243000	Active TSS	HSMM	muscle
28	chr7:26239000-26243200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:26239000-26243200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:26239000-26243600	Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:26239000-26244000	Active TSS	HMEC	breast
32	chr7:26239200-26244000	Active TSS	Fetal Thymus	thymus
33	chr7:26239200-26244000	Active TSS	NHDF-Ad	bronchial
34	chr7:26239400-26243400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:26239400-26243400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr7:26239400-26244000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:26239400-26244000	Active TSS	Hela-S3	cervix
38	chr7:26239400-26244600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:26239400-26244800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:26239600-26243400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:26239600-26243400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:26240200-26243000	Active TSS	Fetal Brain Female	brain
43	chr7:26240400-26243400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:26241600-26243400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:26241600-26244000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:26241800-26243000	Active TSS	Right Atrium	heart
47	chr7:26242000-26243400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:26242000-26243400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links