Variant report

Variant	rs7017683
Chromosome Location	chr8:91959989-91959990
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	chr8:91899809..91901521-chr8:91959173..91961747,2	MCF-7	breast:
2	chr8:91657145..91659963-chr8:91959469..91961575,2	K562	blood:
3	chr8:91766298..91768273-chr8:91958618..91960656,4	MCF-7	breast:
4	chr8:91927448..91929961-chr8:91958742..91961507,2	MCF-7	breast:
5	chr8:91926255..91928401-chr8:91959261..91961573,2	MCF-7	breast:
6	chr8:91959453..91962179-chr8:92052048..92053855,2	MCF-7	breast:
7	chr8:91657400..91660688-chr8:91957900..91964559,6	MCF-7	breast:
8	chr8:91769675..91771351-chr8:91958507..91960035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10106570	0.80[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs1038545	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1038546	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1055146	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs10808632	0.83[CHB][hapmap]
rs10808633	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1159962	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs1160329	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs11780153	0.91[CHB][hapmap]
rs11787186	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs1386113	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1471847	0.81[ASN][1000 genomes]
rs1486468	1.00[CHB][hapmap]
rs1552397	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1825691	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs2019889	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2035595	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2054806	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2062882	0.88[JPT][hapmap];0.91[MEX][hapmap]
rs2101378	0.81[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2631007	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2631008	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2631015	0.83[CHB][hapmap]
rs2631018	0.83[ASN][1000 genomes]
rs2631023	0.81[ASN][1000 genomes]
rs2631025	0.81[ASN][1000 genomes]
rs2631026	0.83[ASN][1000 genomes]
rs2631029	0.83[ASN][1000 genomes]
rs2677572	0.83[ASN][1000 genomes]
rs2677574	0.82[ASN][1000 genomes]
rs2677581	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2740774	0.81[ASN][1000 genomes]
rs2740775	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2740778	0.83[ASN][1000 genomes]
rs2740779	0.83[ASN][1000 genomes]
rs2740780	0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2740781	0.81[CEU][hapmap];0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2740785	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2740788	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2740789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740791	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap]
rs4529427	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs6471254	0.82[MEX][hapmap]
rs7012165	0.91[MEX][hapmap]
rs7818187	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7824149	0.88[JPT][hapmap];0.95[MEX][hapmap]
rs7829663	1.00[ASW][hapmap]
rs7831333	0.81[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs7837376	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs7844134	0.88[JPT][hapmap]
rs931336	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs931337	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs997898	1.00[ASW][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap]
rs997899	0.83[CHB][hapmap];0.88[CHD][hapmap]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91951800-91986400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91952600-91960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:91953000-91964200	Weak transcription	Ovary	ovary
4	chr8:91953200-91960000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:91953200-91960000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:91953200-91960600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:91953200-91964000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:91953200-91967000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:91953400-91960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:91953400-91960200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:91953400-91967000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:91953400-91972000	Weak transcription	NHDF-Ad	bronchial
13	chr8:91953400-91981400	Weak transcription	HSMM	muscle
14	chr8:91953400-91984600	Weak transcription	NH-A	brain
15	chr8:91953600-91960200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:91953600-91960400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:91953600-91963000	Weak transcription	Lung	lung
18	chr8:91953600-91965800	Weak transcription	NHLF	lung
19	chr8:91953600-91966600	Weak transcription	Right Ventricle	heart
20	chr8:91953600-91970000	Weak transcription	Brain Anterior Caudate	brain
21	chr8:91953600-91974800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:91953600-91976000	Weak transcription	Brain Substantia Nigra	brain
23	chr8:91953600-91977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:91954000-91970600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:91954000-91974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:91954600-91960600	Weak transcription	Fetal Heart	heart
27	chr8:91954600-91961000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:91955000-91974800	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:91955400-91960800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:91955600-91960000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:91955600-91972000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:91955600-91975000	Weak transcription	Adipose Nuclei	Adipose
33	chr8:91955800-91972000	Weak transcription	Fetal Lung	lung
34	chr8:91956000-91960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:91956400-91968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:91956600-91960000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:91956600-91974400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:91957200-91976200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:91957400-91974400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:91958000-91976200	Weak transcription	K562	blood
41	chr8:91958200-91996000	Weak transcription	Fetal Stomach	stomach
42	chr8:91958800-91960200	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:91958800-91964200	Weak transcription	Left Ventricle	heart
44	chr8:91958800-91972000	Weak transcription	Brain Angular Gyrus	brain
45	chr8:91959200-91960200	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:91959200-91960800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:91959200-91969800	Weak transcription	Aorta	Aorta
48	chr8:91959200-91974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:91959400-91960000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:91959400-91961400	Weak transcription	Stomach Smooth Muscle	stomach

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