Variant report

Variant	rs73471986
Chromosome Location	chr7:129589719-129589720
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	SP1	chr7:129588567-129589722	A549	lung:	n/a	chr7:129588750-129588764
2	POLR2A	chr7:129589261-129590115	GM12891	blood:	n/a	n/a
3	TEAD4	chr7:129588095-129589857	ECC-1	luminal epithelium:	n/a	chr7:129589276-129589285
4	TAF1	chr7:129588698-129589877	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:129588622-129589737	MCF-7	breast:	n/a	chr7:129589372-129589381
6	MAX	chr7:129588590-129589786	ECC-1	luminal epithelium:	n/a	chr7:129589372-129589381
7	POLR2A	chr7:129589299-129589810	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr7:129588598-129591765	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:129588724-129592947	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:129588727-129589828	GM12891	blood:	n/a	n/a
11	MAZ	chr7:129588510-129589861	IMR90	lung:	n/a	chr7:129589372-129589381
12	RCOR1	chr7:129588698-129590862	GM12878	blood:	n/a	n/a
13	TEAD4	chr7:129588643-129589941	H1-hESC	embryonic stem cell:	n/a	chr7:129589276-129589285
14	CEBPB	chr7:129588781-129589785	H1-hESC	embryonic stem cell:	n/a	chr7:129589332-129589343 chr7:129589198-129589210
15	NFIC	chr7:129588552-129589949	ECC-1	luminal epithelium:	n/a	n/a
16	SPI1	chr7:129589408-129589952	GM12891	blood:	n/a	chr7:129589791-129589798 chr7:129589788-129589801
17	CEBPB	chr7:129588710-129589856	GM12878	blood:	n/a	chr7:129589332-129589343 chr7:129589198-129589210
18	TCF12	chr7:129588606-129589866	ECC-1	luminal epithelium:	n/a	n/a
19	JUND	chr7:129588807-129589849	H1-hESC	embryonic stem cell:	n/a	chr7:129589371-129589383 chr7:129589371-129589382 chr7:129589107-129589118 chr7:129589373-129589381
20	POLR2A	chr7:129589221-129589948	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:129588649-129589937	GM12892	blood:	n/a	n/a
22	CHD2	chr7:129589325-129589803	GM12878	blood:	n/a	n/a
23	MAX	chr7:129588616-129589764	SK-N-SH	brain:	n/a	chr7:129589372-129589381
24	NFIC	chr7:129588633-129589829	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr7:129589337-129589816	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:129588714-129592949	GM18505	blood:	n/a	n/a
27	EP300	chr7:129589274-129589758	SK-N-SH_RA	brain:	n/a	chr7:129589432-129589445
28	POLR2A	chr7:129588752-129590613	K562	blood:	n/a	n/a
29	POLR2A	chr7:129588773-129589764	IMR90	lung:	n/a	n/a
30	TAF1	chr7:129588662-129589857	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr7:129588722-129589728	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:129588682-129589933	U87	brain:	n/a	n/a
33	CHD2	chr7:129589399-129589811	H1-hESC	embryonic stem cell:	n/a	n/a
34	NFIC	chr7:129588592-129590898	GM12878	blood:	n/a	n/a
35	MTA3	chr7:129588689-129593264	GM12878	blood:	n/a	n/a
36	ELF1	chr7:129588513-129589859	SK-N-SH	brain:	n/a	chr7:129588686-129588697
37	CEBPB	chr7:129588679-129589796	Hela-S3	cervix:	n/a	chr7:129589332-129589343 chr7:129589198-129589210
38	SP1	chr7:129588491-129589964	HCT-116	colon:	n/a	chr7:129588750-129588764
39	POLR2A	chr7:129588762-129590059	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr7:129588606-129589856	ECC-1	luminal epithelium:	n/a	chr7:129589372-129589381
41	POLR2A	chr7:129588654-129592959	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:129588635-129592962	GM12891	blood:	n/a	n/a
43	TCF7L2	chr7:129588579-129590217	HEK293	kidney:	n/a	chr7:129588949-129588963 chr7:129588952-129588961 chr7:129588949-129588965
44	FOXM1	chr7:129588541-129589836	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:129588673-129589912	H1-neurons	neurons:	n/a	n/a
46	SIN3AK20	chr7:129588442-129589883	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:129588627-129589777	PFSK-1	brain:	n/a	n/a
48	CHD1	chr7:129588790-129592142	H1-hESC	embryonic stem cell:	n/a	chr7:129591481-129591491
49	SIN3AK20	chr7:129588458-129589734	MCF-7	breast:	n/a	n/a
50	CHD1	chr7:129588683-129591208	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129589382..129590984-chr7:129615027..129617331,2	MCF-7	breast:
2	chr7:129553150..129555406-chr7:129588626..129590214,2	MCF-7	breast:
3	chr7:129470865..129472484-chr7:129587803..129590371,2	K562	blood:
4	chr7:129585963..129587755-chr7:129588456..129590565,2	MCF-7	breast:
5	chr7:129589706..129593830-chr7:129648569..129652314,11	MCF-7	breast:
6	chr7:129588627..129590640-chr7:129608239..129610000,3	MCF-7	breast:
7	chr7:129588317..129590256-chr7:129649114..129650683,2	K562	blood:
8	chr7:129589671..129591820-chr7:129593971..129596891,3	K562	blood:
9	chr7:129580280..129582839-chr7:129588258..129589912,2	MCF-7	breast:
10	chr7:129580973..129583222-chr7:129589098..129590720,2	MCF-7	breast:
11	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:
12	chr7:129469886..129472381-chr7:129587283..129590699,3	MCF-7	breast:
13	chr7:129583013..129586797-chr7:129588457..129590317,4	K562	blood:

Variant related genes	Relation type
ENSG00000244036	TF binding region
ENSG00000199516	TF binding region
ENSG00000244036	Chromatin interaction
ENSG00000199516	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57085267	1.00[AMR][1000 genomes]
rs57351931	1.00[AMR][1000 genomes]
rs57534840	1.00[AMR][1000 genomes]
rs58432106	1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs6960765	1.00[AMR][1000 genomes]
rs73469778	1.00[AMR][1000 genomes]
rs73469787	1.00[AMR][1000 genomes]
rs73469788	1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AMR][1000 genomes]
rs73471913	1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471988	1.00[AMR][1000 genomes]
rs73471991	1.00[AMR][1000 genomes]
rs73471994	1.00[AMR][1000 genomes]
rs73471997	1.00[AMR][1000 genomes]
rs73472001	1.00[AMR][1000 genomes]
rs7808364	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:129586400-129590400	Enhancers	Small Intestine	intestine
2	chr7:129588000-129589800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr7:129588000-129590200	Flanking Active TSS	Hela-S3	cervix
4	chr7:129588200-129589800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:129588200-129590400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:129588200-129591200	Flanking Active TSS	Liver	Liver
7	chr7:129588200-129592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:129588400-129589800	Flanking Active TSS	Thymus	Thymus
9	chr7:129588400-129590000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:129588400-129590400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr7:129588400-129590400	Flanking Active TSS	HMEC	breast
12	chr7:129588400-129590800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:129588400-129591200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:129588400-129591200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr7:129588400-129591400	Weak transcription	Gastric	stomach
16	chr7:129588400-129591400	Weak transcription	Spleen	Spleen
17	chr7:129588400-129591800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:129588400-129592200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:129588400-129593000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:129588600-129589800	Flanking Active TSS	HSMM	muscle
21	chr7:129588600-129590000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:129588600-129590000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:129588600-129590000	Flanking Active TSS	NH-A	brain
24	chr7:129588600-129590000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr7:129588600-129590200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:129588600-129590200	Flanking Active TSS	Osteobl	bone
27	chr7:129588600-129590600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:129588600-129590600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr7:129588600-129590600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr7:129588600-129590600	Flanking Active TSS	HUVEC	blood vessel
31	chr7:129588600-129591000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:129588600-129591800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:129588600-129591800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:129588600-129592000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr7:129588600-129593000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:129588600-129593000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:129588600-129593000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:129588600-129593000	Active TSS	Esophagus	oesophagus
39	chr7:129588800-129589800	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr7:129588800-129589800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr7:129588800-129589800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr7:129588800-129589800	Flanking Active TSS	Left Ventricle	heart
43	chr7:129588800-129590000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr7:129588800-129590000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:129588800-129590000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:129588800-129590000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:129588800-129590000	Flanking Active TSS	Fetal Thymus	thymus
48	chr7:129588800-129590200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr7:129588800-129590200	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr7:129588800-129590400	Flanking Active TSS	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links