Variant report

Variant	rs17183616
Chromosome Location	chr7:137618750-137618751
allele	C/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	TCF12	chr7:137617359-137618977	SK-N-SH	brain:	n/a	n/a
2	JUND	chr7:137617416-137618921	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524
3	FOSL2	chr7:137618236-137618790	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137618517-137618524
4	POLR2A	chr7:137617576-137618835	K562	blood:	n/a	n/a
5	RCOR1	chr7:137618557-137619090	K562	blood:	n/a	n/a
6	KAP1	chr7:137617572-137619548	HEK293	kidney:	n/a	n/a
7	FOSL2	chr7:137617395-137618885	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524
8	MAX	chr7:137618270-137618820	SK-N-SH	brain:	n/a	chr7:137618517-137618526
9	PBX3	chr7:137617450-137618806	SK-N-SH	brain:	n/a	chr7:137618109-137618118
10	CBX3	chr7:137617548-137618897	K562	blood:	n/a	chr7:137617948-137617959
11	NFIC	chr7:137617417-137618946	SK-N-SH	brain:	n/a	n/a
12	RFX5	chr7:137617571-137618848	IMR90	lung:	n/a	n/a
13	PBX3	chr7:137617385-137618816	SK-N-SH	brain:	n/a	chr7:137618109-137618118
14	TEAD4	chr7:137617480-137618844	K562	blood:	n/a	n/a
15	SMARCB1	chr7:137617325-137618930	K562	blood:	n/a	n/a
16	JUND	chr7:137617540-137618863	K562	blood:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524
17	RCOR1	chr7:137618198-137618782	K562	blood:	n/a	n/a
18	MAZ	chr7:137617484-137618794	K562	blood:	n/a	chr7:137618517-137618526
19	ZMIZ1	chr7:137617972-137618878	K562	blood:	n/a	n/a
20	EP300	chr7:137617334-137618930	SK-N-SH	brain:	n/a	chr7:137618517-137618526 chr7:137617935-137617949
21	RXRA	chr7:137617474-137618872	SK-N-SH	brain:	n/a	chr7:137618261-137618268
22	TBL1XR1	chr7:137617594-137618818	K562	blood:	n/a	n/a
23	MAX	chr7:137617546-137618873	SK-N-SH	brain:	n/a	chr7:137618517-137618526
24	ZC3H11A	chr7:137618242-137618826	K562	blood:	n/a	n/a
25	EP300	chr7:137618277-137618758	SK-N-SH_RA	brain:	n/a	chr7:137618517-137618526
26	POLR2A	chr7:137617547-137618797	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr7:137617343-137618973	SK-N-SH	brain:	n/a	chr7:137618345-137618361
28	GATA3	chr7:137617412-137618844	SK-N-SH	brain:	n/a	chr7:137618345-137618361
29	FOSL1	chr7:137618274-137618787	K562	blood:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137618515-137618526 chr7:137618517-137618524
30	TCF12	chr7:137617304-137619036	SK-N-SH	brain:	n/a	n/a
31	MAFK	chr7:137618060-137619146	K562	blood:	n/a	chr7:137618517-137618527
32	NR2F2	chr7:137617501-137618774	K562	blood:	n/a	n/a
33	NFIC	chr7:137618217-137618869	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a
35	JUND	chr7:137617382-137618922	SK-N-SH	brain:	n/a	chr7:137618517-137618525 chr7:137618515-137618527 chr7:137618517-137618525 chr7:137617822-137617832 chr7:137618108-137618117 chr7:137618517-137618524

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:137618712-137618762	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:137618712-137618762	NT2-D1	testis:	n/a
3	chr7:137618712-137618762	HRCEpiC	kidney:	n/a
4	chr7:137618712-137618762	HCPEpiC	choroid plexus:	n/a
5	chr7:137618712-137618762	HEK293	kidney:	embryo
6	chr7:137618712-137618762	MCF-7	breast:	n/a
7	chr7:137618712-137618762	PrEC	prostate:	n/a
8	chr7:137618712-137618762	U87	brain:	n/a
9	chr7:137618712-137618762	HRE	kidney:	n/a
10	chr7:137618712-137618762	AG09309	skin:	n/a
11	chr7:137618712-137618762	RPTEC	kidney:	n/a
12	chr7:137618712-137618762	Jurkat	blood:	n/a
13	chr7:137618712-137618762	BE2_C	brain:	n/a
14	chr7:137618712-137618762	GM12891	blood:	n/a
15	chr7:137618712-137618762	SK-N-SH_RA	brain:	n/a
16	chr7:137618712-137618762	NHBE	bronchial:	n/a
17	chr7:137618712-137618762	Caco-2	colon:	n/a
18	chr7:137618712-137618762	SK-N-SH	brain:	n/a
19	chr7:137618712-137618762	IMR90	lung:	fetal
20	chr7:137618712-137618762	CMK	blood:	n/a
21	chr7:137618712-137618762	HNPCEpiC	eye:	n/a
22	chr7:137618712-137618762	HEEpiC	esophagus:	n/a
23	chr7:137618712-137618762	HepG2	liver:	n/a
24	chr7:137618712-137618762	AG09319	gingival:	n/a
25	chr7:137618712-137618762	GM12878	blood:	n/a
26	chr7:137618712-137618762	SAEC	small airway:	n/a
27	chr7:137618712-137618762	AG10803	skin:	n/a
28	chr7:137618712-137618762	PFSK-1	brain:	n/a
29	chr7:137618712-137618762	H1-hESC	embryonic stem cell:	embryo
30	chr7:137618712-137618762	BJ	skin:	n/a
31	chr7:137618712-137618762	NHDF-neo	bronchial:	n/a
32	chr7:137618712-137618762	ECC-1	luminal epithelium:	n/a
33	chr7:137618712-137618762	AoSMC	blood vessel:	n/a
34	chr7:137618712-137618762	HMEC	breast:	n/a
35	chr7:137618712-137618762	LNCaP	prostate:	n/a
36	chr7:137618712-137618762	HRPEpiC	eye:	n/a
37	chr7:137618712-137618762	ovcar-3	ovarian:	n/a
38	chr7:137618712-137618762	A549	lung:	n/a
39	chr7:137618712-137618762	ProgFib	skin:	n/a
40	chr7:137618712-137618762	AG04449	skin:	fetal
41	chr7:137618712-137618762	PANC-1	pancreas:	n/a
42	chr7:137618712-137618762	HCF	heart:	n/a
43	chr7:137618712-137618762	NB4	blood:	n/a
44	chr7:137618712-137618762	SKMC	muscle:	n/a
45	chr7:137618712-137618762	GM19239	blood:	n/a
46	chr7:137618712-137618762	Hepatocyte	liver:	n/a
47	chr7:137618712-137618762	HL-60	blood:	n/a
48	chr7:137618712-137618762	MCF10A-Er-Src	breast:	n/a
49	chr7:137618712-137618762	K562	blood:	n/a
50	chr7:137618712-137618762	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137611909..137614588-chr7:137616790..137618864,2	K562	blood:

Variant related genes	Relation type
CREB3L2	TF binding region
CREB3L2	CpG island
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10224250	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260415	1.00[CEU][hapmap]
rs10267160	0.91[CEU][hapmap]
rs10488443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11970829	1.00[CHB][hapmap]
rs12533090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169459	0.91[CEU][hapmap]
rs17190292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17275136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100060	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs34786382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.83[AMR][1000 genomes]
rs7812168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691292	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr7:137588800-137620200	Weak transcription	Dnd41	blood
2	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
3	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
6	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
7	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:137613400-137620200	Enhancers	Placenta	Placenta
10	chr7:137613600-137619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
17	chr7:137615400-137619200	Enhancers	NH-A	brain
18	chr7:137615400-137619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
20	chr7:137615800-137618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
22	chr7:137616800-137619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:137617000-137619600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
26	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
27	chr7:137617200-137618800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:137617200-137619200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:137617200-137619200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:137617200-137619200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:137617200-137619200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:137617200-137619200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:137617200-137619400	Enhancers	Left Ventricle	heart
34	chr7:137617200-137619400	Enhancers	Pancreas	Pancrea
35	chr7:137617200-137619400	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:137617200-137619600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:137617200-137619600	Enhancers	Gastric	stomach
38	chr7:137617200-137619600	Enhancers	Psoas Muscle	Psoas
39	chr7:137617200-137619800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:137617200-137619800	Enhancers	Right Atrium	heart
41	chr7:137617200-137620000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:137617200-137620000	Enhancers	NHEK	skin
43	chr7:137617200-137620200	Enhancers	Aorta	Aorta
44	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:137617400-137618800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:137617400-137618800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:137617400-137618800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:137617400-137618800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:137617400-137618800	Genic enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links