Variant report

Variant	rs73401429
Chromosome Location	chr7:99967039-99967040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99965139-99967310	U87	brain:	n/a	n/a
2	POLR2A	chr7:99965877-99967236	GM12878	blood:	n/a	n/a
3	USF1	chr7:99966768-99967249	K562	blood:	n/a	n/a
4	POLR2A	chr7:99966743-99967186	GM15510	blood:	n/a	n/a
5	JUND	chr7:99966818-99967116	K562	blood:	n/a	n/a
6	POLR2A	chr7:99966476-99967244	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:99961591-99967321	K562	blood:	n/a	n/a
8	RELA	chr7:99966714-99967179	GM19099	blood:	n/a	n/a
9	USF2	chr7:99966781-99967165	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr7:99966892-99967050	K562	blood:	n/a	n/a
11	POLR2A	chr7:99965859-99967313	GM12878	blood:	n/a	n/a
12	PBX3	chr7:99966779-99967065	GM12878	blood:	n/a	n/a
13	USF1	chr7:99966825-99967169	GM12878	blood:	n/a	n/a
14	NFYB	chr7:99966884-99967152	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:99966774-99967290	ProgFib	skin:	n/a	n/a
16	BHLHE40	chr7:99966611-99967519	GM12878	blood:	n/a	n/a
17	RCOR1	chr7:99966865-99967061	K562	blood:	n/a	n/a
18	BCL3	chr7:99966208-99967162	A549	lung:	n/a	n/a
19	POLR2A	chr7:99961803-99969906	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:99965769-99967305	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:99963758-99967389	U87	brain:	n/a	n/a
22	POLR2A	chr7:99965704-99967281	HepG2	liver:	n/a	n/a
23	BCL11A	chr7:99966706-99967103	GM12878	blood:	n/a	n/a
24	SP1	chr7:99966674-99967210	GM12878	blood:	n/a	chr7:99966886-99966900
25	POLR2A	chr7:99965859-99967296	Hela-S3	cervix:	n/a	n/a
26	CHD1	chr7:99966770-99967175	GM12878	blood:	n/a	n/a
27	CREB1	chr7:99966820-99967074	A549	lung:	n/a	n/a
28	BCLAF1	chr7:99966683-99967290	GM12878	blood:	n/a	n/a
29	JUND	chr7:99966695-99967249	A549	lung:	n/a	n/a
30	POLR2A	chr7:99961083-99967399	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr7:99963751-99967565	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr7:99965746-99967417	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:99965828-99967269	HCT-116	colon:	n/a	n/a
34	POLR2A	chr7:99966795-99967058	MCF-7	breast:	n/a	n/a
35	NFE2	chr7:99966810-99967142	GM12878	blood:	n/a	n/a
36	SPI1	chr7:99966490-99967463	GM12878	blood:	n/a	chr7:99966985-99966998 chr7:99966984-99966997 chr7:99966987-99966996
37	MTA3	chr7:99966301-99967651	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:99966604-99967196	GM12891	blood:	n/a	n/a
39	POLR2A	chr7:99966613-99967255	GM19193	blood:	n/a	n/a
40	BCLAF1	chr7:99966671-99967323	GM12878	blood:	n/a	n/a
41	TCF3	chr7:99966789-99967136	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:99963980-99970675	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:99966319-99967349	U87	brain:	n/a	n/a
44	BCL3	chr7:99966350-99967179	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:99966559-99967191	GM12892	blood:	n/a	n/a
46	TBL1XR1	chr7:99966688-99967131	GM12878	blood:	n/a	n/a
47	YY1	chr7:99966838-99967143	GM12878	blood:	n/a	n/a
48	POU2F2	chr7:99966715-99967106	GM12878	blood:	n/a	n/a
49	SPI1	chr7:99966778-99967169	K562	blood:	n/a	chr7:99966985-99966998 chr7:99966984-99966997 chr7:99966987-99966996
50	MYC	chr7:99966856-99967090	K562	blood:	n/a	chr7:99967051-99967061

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99966472..99969884-chr7:100031545..100035720,3	K562	blood:
2	chr7:99965641..99971124-chr7:100025245..100028820,5	MCF-7	breast:
3	chr7:99964978..99968212-chr7:99999516..100003937,4	K562	blood:
4	chr7:99965537..99967599-chr7:100004914..100006864,2	K562	blood:
5	chr7:99750934..99753069-chr7:99966864..99969684,2	MCF-7	breast:
6	chr7:99953918..99957943-chr7:99965213..99968518,4	K562	blood:
7	chr7:99964487..99968212-chr7:99999516..100003937,5	K562	blood:
8	chr7:99966465..99969191-chr7:99975773..99977859,2	K562	blood:
9	chr7:99966413..99968600-chr7:100178875..100181053,2	K562	blood:
10	chr7:99966406..99967976-chr7:99972194..99973946,2	MCF-7	breast:

No data

Variant related genes	Relation type
PILRA	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34242818	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs57528748	1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs60112004	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73405329	1.00[AMR][1000 genomes]
rs73409003	1.00[AMR][1000 genomes]
rs7796719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
3	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
4	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
5	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
6	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
7	chr7:99944200-99967400	Strong transcription	Brain Germinal Matrix	brain
8	chr7:99945400-99969400	Weak transcription	Fetal Heart	heart
9	chr7:99946400-99967400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:99959600-99970200	Weak transcription	HSMM	muscle
11	chr7:99960000-99967400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:99960200-99968400	Weak transcription	Gastric	stomach
13	chr7:99960200-99969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
16	chr7:99960600-99967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:99960600-99970000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
19	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
21	chr7:99960800-99971800	Weak transcription	HSMMtube	muscle
22	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:99961200-99969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99961200-99969800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:99961200-99970000	Weak transcription	NHEK	skin
26	chr7:99961400-99967800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:99961400-99967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:99961400-99969000	Weak transcription	Hela-S3	cervix
29	chr7:99961400-99969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:99961400-99970000	Weak transcription	HUVEC	blood vessel
31	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:99961600-99970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:99961600-99970400	Weak transcription	Fetal Lung	lung
34	chr7:99961600-99970600	Weak transcription	HepG2	liver
35	chr7:99962000-99967800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:99962000-99970200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:99962200-99967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:99962200-99970000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:99962200-99970800	Weak transcription	NH-A	brain
40	chr7:99962400-99967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:99962400-99970000	Weak transcription	Osteobl	bone
42	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:99962800-99972800	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:99963000-99971400	Enhancers	Primary B cells from cord blood	blood
45	chr7:99963600-99969600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:99964000-99967200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr7:99964200-99967200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr7:99964200-99970000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:99964400-99969400	Weak transcription	HMEC	breast
50	chr7:99964400-99970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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