Variant report

Variant	rs3808111
Chromosome Location	chr7:127298765-127298766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127297952..127300246-chr7:127531655..127534465,2	K562	blood:
2	chr7:127291582..127293542-chr7:127297327..127299302,5	MCF-7	breast:
3	chr7:127297314..127299232-chr7:127410523..127413406,2	K562	blood:
4	chr7:127298406..127301093-chr7:127304305..127307205,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10487484	0.82[ASN][1000 genomes]
rs10487494	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10487496	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12706803	0.89[ASN][1000 genomes]
rs13227138	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235029	0.89[ASN][1000 genomes]
rs13235596	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs13309235	0.82[ASN][1000 genomes]
rs1419408	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34121113	0.89[ASN][1000 genomes]
rs34188289	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195583	0.89[ASN][1000 genomes]
rs34211107	0.82[ASN][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.85[ASN][1000 genomes]
rs34814259	0.89[ASN][1000 genomes]
rs34844752	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.82[ASN][1000 genomes]
rs34881339	0.82[ASN][1000 genomes]
rs34980225	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35144279	0.89[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.82[ASN][1000 genomes]
rs35640048	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752619	1.00[JPT][hapmap]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.84[AMR][1000 genomes]
rs3808096	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468943	0.82[ASN][1000 genomes]
rs62481380	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	0.89[AMR][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6957054	0.89[ASN][1000 genomes]
rs6964793	0.82[ASN][1000 genomes]
rs737242	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808161	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293000-127304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:127293200-127302200	Weak transcription	Aorta	Aorta
3	chr7:127293200-127304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127293200-127306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127293200-127306000	Weak transcription	Fetal Brain Female	brain
6	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127294200-127299000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:127294400-127301600	Weak transcription	Fetal Brain Male	brain
10	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
14	chr7:127295000-127299600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:127295000-127299600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:127295000-127300400	Weak transcription	Brain Substantia Nigra	brain
17	chr7:127295000-127300800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:127295000-127301200	Weak transcription	Fetal Lung	lung
19	chr7:127295000-127302000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:127295000-127302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127295000-127303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:127295000-127307400	Weak transcription	Esophagus	oesophagus
23	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:127295000-127314000	Weak transcription	Ovary	ovary
25	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
26	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:127295200-127299200	Weak transcription	HUVEC	blood vessel
30	chr7:127295200-127299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:127295200-127300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:127295200-127301000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:127295200-127305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:127295200-127305800	Weak transcription	Colonic Mucosa	Colon
35	chr7:127295200-127306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:127295400-127299400	Weak transcription	HMEC	breast
39	chr7:127295400-127306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
41	chr7:127295600-127300400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:127295600-127301600	Strong transcription	Primary T cells from cord blood	blood
43	chr7:127295600-127304600	Weak transcription	NHDF-Ad	bronchial
44	chr7:127295600-127306000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:127295600-127306000	Weak transcription	Hela-S3	cervix
46	chr7:127295600-127306000	Weak transcription	HSMM	muscle
47	chr7:127295800-127300000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:127296000-127299200	Genic enhancers	HepG2	liver
49	chr7:127296000-127299400	Genic enhancers	K562	blood
50	chr7:127296000-127299600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links