Variant report

Variant	rs6981007
Chromosome Location	chr8:103598257-103598258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103597686..103598475-chr8:103827015..103827557,2	K562	blood:
2	chr8:103597181..103599862-chr8:103823976..103826204,2	K562	blood:
3	chr8:103419173..103421131-chr8:103596356..103598613,2	MCF-7	breast:
4	chr8:103595537..103599248-chr8:103658324..103661549,5	MCF-7	breast:
5	chr8:103597916..103598469-chr8:103663761..103664702,2	MCF-7	breast:
6	chr8:103421770..103426734-chr8:103594994..103599983,8	K562	blood:
7	chr8:103590031..103592050-chr8:103596499..103598678,2	K562	blood:
8	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
9	chr8:103596770..103599331-chr8:103606707..103609510,2	K562	blood:
10	chr8:103597647..103599314-chr8:103667278..103670180,2	K562	blood:
11	chr8:103594551..103603288-chr8:103816901..103824856,23	MCF-7	breast:
12	chr8:103424271..103427085-chr8:103597732..103599983,3	K562	blood:
13	chr8:103593589..103595372-chr8:103596929..103598477,2	MCF-7	breast:
14	chr8:103597554..103599920-chr8:103818011..103821363,3	MCF-7	breast:
15	chr8:103588739..103590640-chr8:103597997..103600503,2	MCF-7	breast:
16	chr8:103596320..103599073-chr8:103599256..103601533,2	MCF-7	breast:
17	chr8:103544235..103546584-chr8:103596979..103599092,2	MCF-7	breast:
18	chr8:103597143..103598299-chr8:103826485..103827530,5	MCF-7	breast:
19	chr8:103597950..103598611-chr8:103612595..103613568,2	MCF-7	breast:
20	chr8:103415838..103418096-chr8:103597616..103599630,2	K562	blood:
21	chr8:103596917..103599330-chr8:103603358..103606131,2	K562	blood:
22	chr8:103422925..103426536-chr8:103595832..103599844,5	MCF-7	breast:
23	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
24	chr8:103415838..103418096-chr8:103596950..103599630,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000252593	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12543008	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16869658	0.90[JPT][hapmap]
rs17186961	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs4734648	0.81[JPT][hapmap]
rs6468836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468837	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6468838	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017839	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs965661	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103591600-103602200	Weak transcription	Right Ventricle	heart
2	chr8:103591600-103602400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:103594200-103598600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:103594400-103598400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr8:103594600-103598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:103594800-103598400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:103594800-103598400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:103594800-103598800	Enhancers	Primary T cells from cord blood	blood
9	chr8:103595000-103598600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:103595400-103598600	Enhancers	Placenta	Placenta
11	chr8:103595800-103598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:103595800-103598400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:103595800-103598400	Enhancers	Colon Smooth Muscle	Colon
14	chr8:103595800-103598600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:103595800-103598600	Enhancers	Fetal Stomach	stomach
16	chr8:103595800-103599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103596400-103598600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:103596800-103598400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103596800-103598600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:103596800-103598600	Enhancers	Fetal Heart	heart
22	chr8:103597000-103598400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:103597000-103598800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:103597200-103598400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:103597200-103598400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:103597200-103598400	Weak transcription	Psoas Muscle	Psoas
27	chr8:103597200-103598400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:103597200-103602200	Weak transcription	Left Ventricle	heart
29	chr8:103597400-103598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:103597400-103598600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:103597600-103598400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr8:103597600-103598400	Flanking Active TSS	K562	blood
33	chr8:103597600-103598600	Enhancers	Ovary	ovary
34	chr8:103597600-103602200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:103597800-103598400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:103597800-103598400	Enhancers	Fetal Brain Male	brain
37	chr8:103597800-103598600	Enhancers	Fetal Lung	lung
38	chr8:103598000-103598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:103598000-103598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:103598000-103598400	Enhancers	Brain Angular Gyrus	brain
41	chr8:103598000-103598400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:103598000-103598600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:103598000-103598600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:103598000-103598600	Enhancers	Brain Hippocampus Middle	brain
45	chr8:103598000-103598600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:103598000-103598600	Enhancers	Right Atrium	heart
47	chr8:103598000-103598800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:103598000-103598800	Enhancers	Fetal Thymus	thymus
49	chr8:103598000-103599000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:103598200-103598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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