Variant report

Variant	rs6949371
Chromosome Location	chr7:39665419-39665420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39663965..39666888-chr7:39745709..39748529,2	K562	blood:
2	chr7:39662357..39664659-chr7:39665127..39667004,2	MCF-7	breast:
3	chr7:39663090..39665724-chr7:39988469..39990285,2	MCF-7	breast:
4	chr7:39665096..39667977-chr7:39762089..39764682,3	K562	blood:
5	chr7:39660619..39666370-chr7:39771379..39777121,13	MCF-7	breast:
6	chr7:39664269..39666300-chr7:39673433..39674940,2	MCF-7	breast:
7	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:

Variant related genes	Relation type
ENSG00000241127	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000188185	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723890	1.00[EUR][1000 genomes]
rs4723896	0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942614	0.86[AFR][1000 genomes]
rs6948816	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963428	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689251	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689252	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[EUR][1000 genomes]
rs7789326	0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][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	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr7:39663200-39666400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39664000-39665600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:39664000-39666400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:39664200-39665600	Flanking Active TSS	Osteobl	bone
5	chr7:39664400-39665600	Enhancers	Liver	Liver
6	chr7:39664400-39665600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:39664400-39665600	Enhancers	Colon Smooth Muscle	Colon
8	chr7:39664400-39665600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:39664400-39666000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:39664400-39666000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:39664400-39666000	Weak transcription	Lung	lung
12	chr7:39664400-39666200	Enhancers	Brain Germinal Matrix	brain
13	chr7:39664400-39666200	Enhancers	Fetal Intestine Small	intestine
14	chr7:39664400-39666400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:39664400-39666800	Weak transcription	Colonic Mucosa	Colon
16	chr7:39664400-39667800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:39664400-39668000	Enhancers	Stomach Mucosa	stomach
18	chr7:39664400-39668400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:39664400-39669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:39664400-39670000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:39664400-39672200	Weak transcription	Pancreas	Pancrea
22	chr7:39664400-39674600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:39664400-39674600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:39664400-39674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:39664400-39678400	Weak transcription	Placenta	Placenta
26	chr7:39664400-39679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:39664600-39665600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:39664600-39666000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:39664600-39666000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:39664600-39666400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:39664600-39668400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:39664800-39665600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:39664800-39665600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:39664800-39665600	Enhancers	Brain Anterior Caudate	brain
35	chr7:39664800-39665600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:39664800-39665800	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:39664800-39666000	Weak transcription	Esophagus	oesophagus
38	chr7:39664800-39666000	Weak transcription	Left Ventricle	heart
39	chr7:39664800-39666000	Weak transcription	Small Intestine	intestine
40	chr7:39664800-39666200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:39664800-39666200	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:39664800-39666400	Active TSS	GM12878-XiMat	blood
43	chr7:39664800-39666600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:39664800-39667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:39664800-39667400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:39664800-39667800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:39664800-39668000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:39664800-39668000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:39664800-39671000	Weak transcription	Gastric	stomach
50	chr7:39664800-39671400	Weak transcription	Fetal Thymus	thymus

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