Variant report

Variant	rs1871943
Chromosome Location	chr8:130952720-130952721
allele	A/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	GABPA	chr8:130951473-130952734	MCF-7	breast:	n/a	chr8:130952245-130952254 chr8:130952135-130952146 chr8:130952135-130952144 chr8:130952137-130952146 chr8:130952135-130952149 chr8:130952132-130952146 chr8:130951740-130951754
2	E2F6	chr8:130951313-130952812	K562	blood:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
3	BCL3	chr8:130950992-130953051	A549	lung:	n/a	chr8:130951955-130951968 chr8:130951968-130951981 chr8:130951959-130951972 chr8:130952513-130952526
4	SP1	chr8:130951738-130952869	A549	lung:	n/a	chr8:130952209-130952223 chr8:130952214-130952223 chr8:130952197-130952211 chr8:130952213-130952223 chr8:130952078-130952087 chr8:130952214-130952223 chr8:130952212-130952223 chr8:130952212-130952224 chr8:130952198-130952207 chr8:130952213-130952222 chr8:130952080-130952094 chr8:130952212-130952224 chr8:130952303-130952310 chr8:130952196-130952208 chr8:130952197-130952206 chr8:130952267-130952277 chr8:130952197-130952206 chr8:130952213-130952223
5	GATA3	chr8:130951778-130952878	T-47D	breast:	n/a	n/a
6	GATA3	chr8:130951719-130953087	MCF-7	breast:	n/a	chr8:130952950-130952971
7	JUND	chr8:130951670-130952832	MCF-7	breast:	n/a	chr8:130952152-130952161
8	E2F6	chr8:130952242-130952795	A549	lung:	n/a	chr8:130952245-130952254
9	USF1	chr8:130952238-130952773	A549	lung:	n/a	chr8:130952578-130952589
10	MYC	chr8:130951845-130952721	HepG2	liver:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
11	USF1	chr8:130951844-130952742	K562	blood:	n/a	chr8:130952578-130952589 chr8:130951959-130951975 chr8:130951942-130951958
12	MAX	chr8:130951738-130952885	ECC-1	luminal epithelium:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
13	MYC	chr8:130951328-130952883	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
14	UBTF	chr8:130952699-130952761	K562	blood:	n/a	n/a
15	NR2F2	chr8:130951520-130952788	MCF-7	breast:	n/a	n/a
16	HDAC2	chr8:130952404-130952764	K562	blood:	n/a	n/a
17	MXI1	chr8:130951785-130952734	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr8:130951182-130952843	HepG2	liver:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
19	ELF1	chr8:130951343-130952873	MCF-7	breast:	n/a	n/a
20	MXI1	chr8:130951365-130952756	HepG2	liver:	n/a	n/a
21	SMC3	chr8:130951739-130953146	Hela-S3	cervix:	n/a	n/a
22	MAX	chr8:130951739-130952901	H1-hESC	embryonic stem cell:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
23	MAX	chr8:130951779-130952980	ECC-1	luminal epithelium:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
24	POU2F2	chr8:130951687-130952762	GM12878	blood:	n/a	n/a
25	MAX	chr8:130951114-130952968	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
26	GATA3	chr8:130951710-130952955	MCF-7	breast:	n/a	n/a
27	MAX	chr8:130951123-130953053	Hela-S3	cervix:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
28	MAX	chr8:130951779-130952779	A549	lung:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
29	MAX	chr8:130951020-130952904	HCT-116	colon:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
30	SIN3AK20	chr8:130950938-130953054	MCF-7	breast:	n/a	n/a
31	MYC	chr8:130951877-130952839	MCF10A-Er-Src	breast:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
32	RAD21	chr8:130951695-130952820	A549	lung:	n/a	chr8:130952760-130952767
33	GATA3	chr8:130952466-130953104	SH-SY5Y	brain:	n/a	chr8:130952950-130952971
34	MAX	chr8:130951698-130952936	A549	lung:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
35	HA-E2F1	chr8:130951178-130952968	MCF-7	breast:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
36	MAX	chr8:130951791-130952855	H1-hESC	embryonic stem cell:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
37	E2F1	chr8:130951360-130952781	Hela-S3	cervix:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
38	TCF12	chr8:130951724-130952731	ECC-1	luminal epithelium:	n/a	n/a
39	CCNT2	chr8:130951209-130952731	K562	blood:	n/a	chr8:130952213-130952222 chr8:130952198-130952207
40	MAX	chr8:130951782-130952792	NB4	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
41	E2F6	chr8:130952359-130952757	K562	blood:	n/a	n/a
42	MYC	chr8:130951209-130952791	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
43	GATA3	chr8:130950959-130952912	A549	lung:	n/a	n/a
44	MXI1	chr8:130951838-130952752	K562	blood:	n/a	n/a
45	HA-E2F1	chr8:130951361-130952805	Hela-S3	cervix:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
46	USF1	chr8:130951923-130952854	ECC-1	luminal epithelium:	n/a	chr8:130952578-130952589 chr8:130951959-130951975 chr8:130951942-130951958
47	ZBTB7A	chr8:130951437-130952731	ECC-1	luminal epithelium:	n/a	chr8:130952212-130952219 chr8:130952235-130952246
48	MAX	chr8:130951807-130952831	Hela-S3	cervix:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
49	REST	chr8:130951072-130952966	H1-neurons	neurons:	n/a	chr8:130952287-130952300 chr8:130952310-130952318
50	GATA3	chr8:130952402-130952775	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
2	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
3	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
4	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
5	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7825122	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	0.85[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr8:130950200-130952800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:130950200-130952800	Active TSS	Psoas Muscle	Psoas
3	chr8:130950200-130953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:130950400-130953000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:130950600-130952800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:130950600-130952800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:130950600-130953000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:130950600-130953000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:130950800-130952800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:130950800-130952800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:130950800-130952800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:130950800-130953000	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:130951000-130952800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:130951000-130952800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:130951000-130952800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:130951000-130952800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:130951000-130952800	Active TSS	Ovary	ovary
18	chr8:130951000-130952800	Active TSS	A549	lung
19	chr8:130951000-130952800	Active TSS	HSMMtube	muscle
20	chr8:130951000-130953000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:130951000-130953000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr8:130951000-130953000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:130951000-130953200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:130951200-130952800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:130951200-130952800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:130951200-130952800	Active TSS	Brain Cingulate Gyrus	brain
27	chr8:130951200-130952800	Active TSS	Left Ventricle	heart
28	chr8:130951200-130953200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:130951400-130952800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:130951400-130952800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:130951400-130952800	Active TSS	Esophagus	oesophagus
32	chr8:130951400-130952800	Active TSS	Fetal Heart	heart
33	chr8:130951400-130952800	Active TSS	Pancreas	Pancrea
34	chr8:130951400-130952800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:130951400-130952800	Active TSS	NH-A	brain
36	chr8:130951400-130953000	Active TSS	Brain Substantia Nigra	brain
37	chr8:130951400-130953000	Active TSS	Osteobl	bone
38	chr8:130951600-130952800	Active TSS	Fetal Brain Male	brain
39	chr8:130952000-130952800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr8:130952200-130952800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr8:130952200-130952800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr8:130952200-130952800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr8:130952200-130952800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:130952200-130952800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:130952200-130952800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:130952200-130952800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr8:130952200-130952800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr8:130952200-130952800	Flanking Active TSS	Placenta	Placenta
49	chr8:130952200-130952800	Flanking Active TSS	HUVEC	blood vessel
50	chr8:130952200-130953000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links