Variant report

Variant	rs2994295
Chromosome Location	chr8:131296225-131296226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131295881..131297673-chr8:131355533..131357143,2	K562	blood:
2	chr8:131295924..131298030-chr8:131301524..131303913,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10098244	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10099820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10103052	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10109827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs13251129	1.00[YRI][hapmap]
rs13267150	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16893265	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs16904203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904256	1.00[JPT][hapmap]
rs2395992	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2670876	1.00[JPT][hapmap]
rs2670881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2670882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2670886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2670887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2791346	1.00[JPT][hapmap]
rs2791354	1.00[JPT][hapmap]
rs28413707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28736405	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28857237	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994298	1.00[JPT][hapmap]
rs3924350	1.00[JPT][hapmap]
rs4498576	0.85[JPT][hapmap]
rs4733570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66513387	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6991855	0.85[YRI][hapmap]
rs72722357	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7825499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7828689	0.85[YRI][hapmap]
rs7828842	0.85[YRI][hapmap]
rs7830887	0.81[ASN][1000 genomes]
rs7832716	0.82[YRI][hapmap]
rs7836266	0.85[AMR][1000 genomes]
rs7838372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9694314	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:131282400-131314800	Weak transcription	Gastric	stomach
3	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:131288800-131296600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:131289000-131299600	Weak transcription	Pancreas	Pancrea
6	chr8:131289400-131297000	Weak transcription	Fetal Lung	lung
7	chr8:131289400-131300000	Weak transcription	Fetal Brain Female	brain
8	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:131289600-131296800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:131289600-131296800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:131289600-131296800	Weak transcription	Fetal Stomach	stomach
13	chr8:131289600-131296800	Weak transcription	Right Atrium	heart
14	chr8:131289600-131296800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:131289600-131300200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131289600-131300200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:131290200-131299600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:131291600-131297000	Weak transcription	Aorta	Aorta
22	chr8:131291800-131296600	Weak transcription	Small Intestine	intestine
23	chr8:131291800-131296800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:131291800-131296800	Weak transcription	Right Ventricle	heart
25	chr8:131291800-131296800	Weak transcription	Spleen	Spleen
26	chr8:131291800-131300200	Weak transcription	Placenta	Placenta
27	chr8:131291800-131302400	Weak transcription	Left Ventricle	heart
28	chr8:131291800-131305400	Weak transcription	Lung	lung
29	chr8:131292200-131296800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:131292600-131296400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:131292600-131296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:131292600-131297600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:131292600-131298000	Weak transcription	NHEK	skin
34	chr8:131292600-131301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:131292600-131303000	Weak transcription	Adipose Nuclei	Adipose
36	chr8:131292800-131296600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:131292800-131296600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:131292800-131296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:131292800-131296800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:131292800-131296800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:131292800-131296800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:131292800-131296800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:131292800-131297000	Weak transcription	HMEC	breast
44	chr8:131292800-131297800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:131292800-131300200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:131292800-131302000	Weak transcription	NH-A	brain
47	chr8:131292800-131304800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:131293000-131296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:131293000-131296600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:131293000-131296600	Weak transcription	Brain Hippocampus Middle	brain

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