Variant report

Variant	rs12176630
Chromosome Location	chr8:95742394-95742395
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95739872..95741384-chr8:95742004..95743623,2	MCF-7	breast:
2	chr8:95730499..95733547-chr8:95740838..95746370,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10101523	0.81[CHB][hapmap]
rs11025	1.00[AFR][1000 genomes]
rs11986843	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11992120	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12547930	0.81[CHB][hapmap]
rs13262255	0.81[CHB][hapmap]
rs16916994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17718793	0.90[CHB][hapmap]
rs2466431	1.00[AFR][1000 genomes]
rs2466432	1.00[AFR][1000 genomes]
rs2467670	1.00[AFR][1000 genomes]
rs2467678	1.00[AFR][1000 genomes]
rs2722875	0.86[EUR][1000 genomes]
rs2722882	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735324	0.81[CHB][hapmap]
rs6471483	0.84[CHB][hapmap]
rs7000241	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73697004	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387701	0.81[CHB][hapmap]
rs7826057	0.81[CHB][hapmap]
rs7844431	0.81[CHB][hapmap]
rs9642929	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv611751	chr8:95721435-95742394	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95761400	Weak transcription	Spleen	Spleen
2	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95733000-95744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95733000-95747600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:95733000-95761600	Weak transcription	Aorta	Aorta
6	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
7	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
8	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
9	chr8:95733200-95744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:95733200-95752000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:95733400-95743600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:95733400-95752000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:95733400-95783800	Weak transcription	Gastric	stomach
16	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
17	chr8:95733600-95751800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:95733600-95753400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:95733600-95760200	Weak transcription	Thymus	Thymus
20	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain
22	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:95733800-95751800	Weak transcription	NHEK	skin
24	chr8:95733800-95770400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
27	chr8:95734000-95751400	Weak transcription	NHDF-Ad	bronchial
28	chr8:95734000-95751800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:95734000-95751800	Weak transcription	A549	lung
30	chr8:95734000-95761400	Weak transcription	HUVEC	blood vessel
31	chr8:95734000-95761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
33	chr8:95734200-95752000	Weak transcription	NH-A	brain
34	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
36	chr8:95737600-95746400	Weak transcription	Fetal Heart	heart
37	chr8:95737800-95777800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:95738000-95745200	Strong transcription	Dnd41	blood
39	chr8:95738200-95743600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:95738400-95745600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:95738400-95747200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:95738600-95742400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:95738600-95742800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:95738600-95742800	Strong transcription	Liver	Liver
45	chr8:95738600-95745200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:95738600-95746600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:95738800-95743000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:95738800-95745400	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:95738800-95745800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:95739000-95745400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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