Variant report

Variant	rs7010385
Chromosome Location	chr8:126241741-126241742
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126238065..126239621-chr8:126240641..126243197,2	MCF-7	breast:
2	chr8:126240954..126245383-chr8:126440692..126445687,11	MCF-7	breast:
3	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
4	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
5	chr8:126239449..126242296-chr8:126447822..126450391,2	MCF-7	breast:
6	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
7	chr8:126241249..126243357-chr8:126435233..126437414,2	MCF-7	breast:
8	chr8:126240073..126242542-chr8:126442381..126444046,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093813	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095101	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096522	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097568	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098862	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112171	0.93[ASN][1000 genomes]
rs10112583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10216523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283187	1.00[JPT][hapmap]
rs10956230	1.00[JPT][hapmap]
rs2303523	1.00[JPT][hapmap]
rs28469260	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597078	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28700192	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28867439	0.95[ASN][1000 genomes]
rs3763593	0.95[ASN][1000 genomes]
rs6981647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016677	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348181	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs954889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9987342	1.00[JPT][hapmap];0.95[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
3	chr8:126233800-126249600	Weak transcription	Gastric	stomach
4	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
5	chr8:126234000-126242400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:126234200-126242800	Weak transcription	Hela-S3	cervix
7	chr8:126235600-126241800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:126235600-126243800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:126237800-126242600	Weak transcription	Small Intestine	intestine
10	chr8:126237800-126243400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:126238600-126242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:126238800-126244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:126238800-126244800	Weak transcription	Adipose Nuclei	Adipose
15	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:126239000-126243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:126239000-126244800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:126239000-126244800	Weak transcription	Osteobl	bone
19	chr8:126239200-126243400	Weak transcription	HepG2	liver
20	chr8:126239200-126245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:126239400-126242600	Weak transcription	Aorta	Aorta
22	chr8:126239400-126242800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:126239400-126243600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:126239400-126244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:126239600-126242400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:126239600-126242400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:126239600-126242400	Weak transcription	GM12878-XiMat	blood
28	chr8:126239600-126242800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:126239600-126242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:126239600-126242800	Weak transcription	Lung	lung
31	chr8:126239600-126243200	Weak transcription	Primary B cells from cord blood	blood
32	chr8:126239600-126244000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:126239600-126245200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:126239800-126242400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:126239800-126242400	Weak transcription	Brain Substantia Nigra	brain
37	chr8:126239800-126242600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:126239800-126242600	Weak transcription	Dnd41	blood
39	chr8:126239800-126246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:126240000-126242600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
42	chr8:126240800-126241800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:126240800-126241800	Enhancers	K562	blood
44	chr8:126240800-126245400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:126241000-126241800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:126241000-126246000	Weak transcription	Ovary	ovary
47	chr8:126241000-126247000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
49	chr8:126241200-126242400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:126241200-126243400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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