Variant report

Variant	rs965660
Chromosome Location	chr8:103597492-103597493
allele	A/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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103597181..103599862-chr8:103823976..103826204,2	K562	blood:
2	chr8:103419173..103421131-chr8:103596356..103598613,2	MCF-7	breast:
3	chr8:103595537..103599248-chr8:103658324..103661549,5	MCF-7	breast:
4	chr8:103421770..103426734-chr8:103594994..103599983,8	K562	blood:
5	chr8:103597185..103598098-chr8:103826640..103827436,2	MCF-7	breast:
6	chr8:103590031..103592050-chr8:103596499..103598678,2	K562	blood:
7	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
8	chr8:103596770..103599331-chr8:103606707..103609510,2	K562	blood:
9	chr8:103588516..103591531-chr8:103594981..103597999,4	K562	blood:
10	chr8:103594551..103603288-chr8:103816901..103824856,23	MCF-7	breast:
11	chr8:103595019..103597546-chr8:103817677..103820557,2	K562	blood:
12	chr8:103597224..103597751-chr8:103663617..103664253,2	MCF-7	breast:
13	chr8:103593589..103595372-chr8:103596929..103598477,2	MCF-7	breast:
14	chr8:103597183..103598064-chr8:103640833..103641509,2	MCF-7	breast:
15	chr8:103580000..103581988-chr8:103595356..103597962,2	K562	blood:
16	chr8:103596320..103599073-chr8:103599256..103601533,2	MCF-7	breast:
17	chr8:103589513..103592034-chr8:103595117..103597867,3	MCF-7	breast:
18	chr8:103544235..103546584-chr8:103596979..103599092,2	MCF-7	breast:
19	chr8:103594676..103598012-chr8:103663554..103666126,3	K562	blood:
20	chr8:103597143..103598299-chr8:103826485..103827530,5	MCF-7	breast:
21	chr8:103597261..103598173-chr8:103822316..103823433,4	MCF-7	breast:
22	chr8:103594966..103597715-chr8:103663709..103665482,2	MCF-7	breast:
23	chr8:103596917..103599330-chr8:103603358..103606131,2	K562	blood:
24	chr8:103422925..103426536-chr8:103595832..103599844,5	MCF-7	breast:
25	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
26	chr8:103415838..103418096-chr8:103596950..103599630,3	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10955288	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs12674767	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs1318752	0.81[CHB][hapmap]
rs16869664	0.80[CEU][hapmap]
rs2436924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511718	0.81[CEU][hapmap]
rs2511719	0.83[CEU][hapmap]
rs2511730	0.83[CEU][hapmap]
rs55814340	0.91[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103590400-103597600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:103591400-103597600	Weak transcription	NH-A	brain
3	chr8:103591600-103602200	Weak transcription	Right Ventricle	heart
4	chr8:103591600-103602400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103592200-103598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:103592200-103598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:103594200-103598600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:103594400-103598000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:103594400-103598400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:103594600-103597600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:103594600-103597600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:103594600-103597600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:103594600-103597600	Enhancers	Dnd41	blood
14	chr8:103594600-103598800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:103594800-103597600	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:103594800-103597600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:103594800-103597600	Enhancers	Fetal Thymus	thymus
18	chr8:103594800-103598400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:103594800-103598400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:103594800-103598800	Enhancers	Primary T cells from cord blood	blood
21	chr8:103595000-103597600	Enhancers	Primary B cells from cord blood	blood
22	chr8:103595000-103597600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:103595000-103597800	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:103595000-103598600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:103595400-103598600	Enhancers	Placenta	Placenta
26	chr8:103595600-103597600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:103595600-103597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:103595600-103597600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:103595600-103597600	Enhancers	Fetal Muscle Leg	muscle
30	chr8:103595600-103597600	Enhancers	K562	blood
31	chr8:103595800-103597600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:103595800-103597600	Enhancers	Adipose Nuclei	Adipose
33	chr8:103595800-103597600	Enhancers	Fetal Intestine Small	intestine
34	chr8:103595800-103597600	Enhancers	Thymus	Thymus
35	chr8:103595800-103598200	Weak transcription	Lung	lung
36	chr8:103595800-103598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:103595800-103598400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:103595800-103598400	Enhancers	Colon Smooth Muscle	Colon
39	chr8:103595800-103598600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:103595800-103598600	Enhancers	Fetal Stomach	stomach
41	chr8:103595800-103599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:103596000-103597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:103596000-103597600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:103596200-103597600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:103596200-103597600	Enhancers	Brain Angular Gyrus	brain
46	chr8:103596200-103597600	Enhancers	Brain Hippocampus Middle	brain
47	chr8:103596400-103597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:103596400-103597600	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:103596400-103597600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:103596400-103597600	Enhancers	Right Atrium	heart

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