Variant report

Variant	rs10236132
Chromosome Location	chr7:50517478-50517479
allele	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	HA-E2F1	chr7:50517386-50518450	MCF-7	breast:	n/a	chr7:50517681-50517690 chr7:50517973-50517982 chr7:50518051-50518060
2	JUN	chr7:50516846-50518497	K562	blood:	n/a	chr7:50517852-50517861 chr7:50517974-50517983
3	SIN3AK20	chr7:50517408-50518353	PANC-1	pancreas:	n/a	n/a
4	MAZ	chr7:50517467-50518308	K562	blood:	n/a	chr7:50518140-50518149
5	POLR2A	chr7:50517478-50518321	U87	brain:	n/a	n/a
6	NFIC	chr7:50517343-50518277	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr7:50517409-50518326	NB4	blood:	n/a	chr7:50518140-50518149
8	ZBTB7A	chr7:50517386-50518193	ECC-1	luminal epithelium:	n/a	n/a
9	RUNX3	chr7:50517469-50518770	GM12878	blood:	n/a	n/a
10	TCF12	chr7:50517247-50518159	ECC-1	luminal epithelium:	n/a	n/a
11	RUNX3	chr7:50517389-50518384	GM12878	blood:	n/a	n/a
12	ZNF263	chr7:50517463-50518620	HEK293-T-REx	kidney:	n/a	n/a
13	MXI1	chr7:50517199-50518520	IMR90	lung:	n/a	n/a
14	TEAD4	chr7:50517402-50518238	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr7:50517420-50518315	ECC-1	luminal epithelium:	n/a	n/a
16	MAZ	chr7:50517415-50518497	GM12878	blood:	n/a	chr7:50518140-50518149
17	POLR2A	chr7:50517231-50518406	H1-neurons	neurons:	n/a	n/a
18	TAF1	chr7:50517448-50518434	ECC-1	luminal epithelium:	n/a	n/a
19	NRF1	chr7:50516865-50518475	SK-N-SH	brain:	n/a	chr7:50518052-50518061 chr7:50518050-50518064 chr7:50517681-50517690 chr7:50518050-50518061 chr7:50518132-50518141 chr7:50518050-50518061 chr7:50518047-50518061
20	MYC	chr7:50517363-50518413	K562	blood:	n/a	chr7:50518140-50518149
21	E2F4	chr7:50517106-50518369	MCF10A-Er-Src	breast:	n/a	chr7:50517681-50517690 chr7:50517973-50517982 chr7:50518051-50518060
22	MYC	chr7:50517471-50518371	K562	blood:	n/a	chr7:50518140-50518149
23	ZMIZ1	chr7:50517460-50518202	K562	blood:	n/a	n/a
24	EP300	chr7:50517283-50518392	ECC-1	luminal epithelium:	n/a	chr7:50518216-50518224 chr7:50518136-50518152 chr7:50518149-50518165
25	EGR1	chr7:50517333-50518529	HCT-116	colon:	n/a	chr7:50517682-50517695 chr7:50517972-50517982 chr7:50517682-50517695 chr7:50518143-50518153 chr7:50517680-50517690 chr7:50518138-50518151 chr7:50518051-50518060
26	EGR1	chr7:50517416-50518463	HCT-116	colon:	n/a	chr7:50517682-50517695 chr7:50517972-50517982 chr7:50517682-50517695 chr7:50518143-50518153 chr7:50517680-50517690 chr7:50518138-50518151 chr7:50518051-50518060
27	SMARCB1	chr7:50517478-50518537	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr7:50517467-50518477	K562	blood:	n/a	n/a
29	ZBTB7A	chr7:50517457-50518186	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr7:50517107-50519658	SK-N-SH	brain:	n/a	n/a
31	TCF7L2	chr7:50517478-50518256	HCT-116	colon:	n/a	n/a
32	NFIC	chr7:50517310-50518224	ECC-1	luminal epithelium:	n/a	n/a
33	MTA3	chr7:50517473-50519063	GM12878	blood:	n/a	n/a
34	HCFC1	chr7:50517057-50518503	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr7:50517307-50518433	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr7:50517470-50518383	NB4	blood:	n/a	n/a
37	EP300	chr7:50517399-50517965	ECC-1	luminal epithelium:	n/a	n/a
38	REST	chr7:50517440-50518388	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50517434-50517484	HCT-116	colon:	n/a
2	chr7:50517434-50517484	HEEpiC	esophagus:	n/a
3	chr7:50517434-50517484	AG10803	skin:	n/a
4	chr7:50517434-50517484	ECC-1	luminal epithelium:	n/a
5	chr7:50517434-50517484	HIPEpiC	eye:	n/a
6	chr7:50517434-50517484	ProgFib	skin:	n/a
7	chr7:50517434-50517484	RPTEC	kidney:	n/a
8	chr7:50517434-50517484	GM06990	blood:	n/a
9	chr7:50517434-50517484	U87	brain:	n/a
10	chr7:50517434-50517484	SK-N-SH	brain:	n/a
11	chr7:50517434-50517484	IMR90	lung:	fetal
12	chr7:50517434-50517484	MCF10A-Er-Src	breast:	n/a
13	chr7:50517434-50517484	Hepatocyte	liver:	n/a
14	chr7:50517434-50517484	HL-60	blood:	n/a
15	chr7:50517434-50517484	H1-hESC	embryonic stem cell:	embryo
16	chr7:50517434-50517484	GM12891	blood:	n/a
17	chr7:50517434-50517484	NT2-D1	testis:	n/a
18	chr7:50517434-50517484	NHDF-neo	bronchial:	n/a
19	chr7:50517434-50517484	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:50517434-50517484	GM12878	blood:	n/a
21	chr7:50517434-50517484	HepG2	liver:	n/a
22	chr7:50517434-50517484	GM12892	blood:	n/a
23	chr7:50517434-50517484	Hela-S3	cervix:	n/a
24	chr7:50517434-50517484	K562	blood:	n/a
25	chr7:50517434-50517484	NH-A	brain:	n/a
26	chr7:50517434-50517484	A549	lung:	n/a
27	chr7:50517434-50517484	HRPEpiC	eye:	n/a
28	chr7:50517434-50517484	HRCEpiC	kidney:	n/a
29	chr7:50517434-50517484	PrEC	prostate:	n/a
30	chr7:50517434-50517484	LNCaP	prostate:	n/a
31	chr7:50517434-50517484	Caco-2	colon:	n/a
32	chr7:50517434-50517484	T-47D	breast:	n/a
33	chr7:50517434-50517484	HMEC	breast:	n/a
34	chr7:50517434-50517484	SAEC	small airway:	n/a
35	chr7:50517434-50517484	PFSK-1	brain:	n/a
36	chr7:50517434-50517484	HAEpiC	amniotic membrane:	n/a
37	chr7:50517434-50517484	Jurkat	blood:	n/a
38	chr7:50517434-50517484	BJ	skin:	n/a
39	chr7:50517434-50517484	BE2_C	brain:	n/a
40	chr7:50517434-50517484	SK-N-SH_RA	brain:	n/a
41	chr7:50517434-50517484	AG09309	skin:	n/a
42	chr7:50517434-50517484	SK-N-MC	brain:	n/a
43	chr7:50517434-50517484	AoSMC	blood vessel:	n/a
44	chr7:50517434-50517484	CMK	blood:	n/a
45	chr7:50517434-50517484	HEK293	kidney:	embryo
46	chr7:50517434-50517484	SKMC	muscle:	n/a
47	chr7:50517434-50517484	PANC-1	pancreas:	n/a
48	chr7:50517434-50517484	MCF-7	breast:	n/a
49	chr7:50517434-50517484	HRE	kidney:	n/a
50	chr7:50517434-50517484	HCF	heart:	n/a

Variant related genes	Relation type
FIGNL1	TF binding region
FIGNL1	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1002371	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10224094	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250794	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261922	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270682	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575544	0.92[ASN][1000 genomes]
rs11575575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573146	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs55693922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782136	0.87[ASN][1000 genomes]
rs62445903	0.87[ASN][1000 genomes]
rs6944650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972091	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:50515000-50517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50515000-50517600	Weak transcription	Lung	lung
4	chr7:50516400-50517600	Flanking Active TSS	Dnd41	blood
5	chr7:50516800-50517600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:50516800-50517600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:50516800-50517600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:50516800-50517800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr7:50516800-50517800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr7:50516800-50517800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:50516800-50518800	Active TSS	NHLF	lung
12	chr7:50516800-50519000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:50517000-50517600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:50517000-50517600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr7:50517000-50517600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr7:50517000-50517600	Flanking Active TSS	Fetal Brain Female	brain
17	chr7:50517000-50517600	Flanking Active TSS	NHEK	skin
18	chr7:50517000-50518600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:50517000-50518800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50517000-50518800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:50517000-50518800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:50517200-50517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:50517200-50517600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:50517200-50517600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:50517200-50517600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:50517200-50517600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:50517200-50517600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:50517200-50517600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:50517200-50517600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:50517200-50517600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:50517200-50517600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr7:50517200-50517600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr7:50517200-50517600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:50517200-50517600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr7:50517200-50517600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:50517200-50517600	Flanking Active TSS	Fetal Heart	heart
37	chr7:50517200-50517600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr7:50517200-50517600	Flanking Active TSS	Fetal Stomach	stomach
39	chr7:50517200-50517600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:50517200-50517600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr7:50517200-50517600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr7:50517200-50517600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:50517200-50517600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:50517200-50517600	Enhancers	Small Intestine	intestine
45	chr7:50517200-50517600	Flanking Active TSS	Stomach Mucosa	stomach
46	chr7:50517200-50517600	Flanking Active TSS	NH-A	brain
47	chr7:50517200-50517600	Flanking Active TSS	Osteobl	bone
48	chr7:50517200-50517800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:50517200-50517800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:50517200-50517800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links