Variant report

Variant	rs10956230
Chromosome Location	chr8:126043470-126043471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126034079..126036692-chr8:126041043..126043617,4	MCF-7	breast:
2	chr8:126028018..126030385-chr8:126043461..126046019,3	MCF-7	breast:
3	chr8:126040564..126044371-chr8:126078561..126080498,4	MCF-7	breast:
4	chr8:126042624..126044685-chr8:126442356..126444017,2	K562	blood:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10089963	1.00[JPT][hapmap]
rs10093813	1.00[JPT][hapmap]
rs10093819	1.00[JPT][hapmap]
rs10099802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102769	1.00[JPT][hapmap]
rs10103274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106909	1.00[JPT][hapmap]
rs10109490	1.00[JPT][hapmap]
rs10109574	1.00[JPT][hapmap]
rs10110958	1.00[JPT][hapmap]
rs10112583	1.00[JPT][hapmap]
rs10216523	1.00[JPT][hapmap]
rs10283187	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303523	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010385	1.00[JPT][hapmap]
rs7357374	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs954889	1.00[JPT][hapmap]
rs9987342	1.00[JPT][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	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	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
3	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:126027600-126044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:126028200-126044800	Strong transcription	Primary B cells from cord blood	blood
8	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
12	chr8:126029400-126044000	Weak transcription	Pancreas	Pancrea
13	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:126031800-126046400	Weak transcription	Colonic Mucosa	Colon
19	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:126032000-126044200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:126033400-126044000	Weak transcription	HepG2	liver
24	chr8:126034400-126044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:126036400-126043800	Weak transcription	Esophagus	oesophagus
26	chr8:126036400-126043800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:126036400-126044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
29	chr8:126036600-126043800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:126036600-126043800	Weak transcription	Hela-S3	cervix
31	chr8:126036800-126043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:126036800-126044000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:126036800-126046800	Weak transcription	K562	blood
34	chr8:126036800-126050400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:126037000-126043800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:126037200-126043800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:126037400-126044200	Weak transcription	HUVEC	blood vessel
38	chr8:126037400-126048400	Weak transcription	Fetal Kidney	kidney
39	chr8:126038600-126043800	Weak transcription	Dnd41	blood
40	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:126039400-126044800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr8:126039400-126044800	Strong transcription	Brain Hippocampus Middle	brain
43	chr8:126039400-126045400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
45	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:126039600-126045200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach

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