Variant report

Variant	rs219962
Chromosome Location	chr6:12170830-12170831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12170203..12172670-chr6:12174688..12177744,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2157498	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219938	1.00[ASN][1000 genomes]
rs219939	1.00[ASN][1000 genomes]
rs219947	1.00[ASN][1000 genomes]
rs56938888	1.00[ASN][1000 genomes]
rs57691377	1.00[ASN][1000 genomes]
rs58790093	1.00[ASN][1000 genomes]
rs58853119	1.00[ASN][1000 genomes]
rs59856455	1.00[ASN][1000 genomes]
rs60767400	1.00[ASN][1000 genomes]
rs60883877	1.00[ASN][1000 genomes]
rs61374931	1.00[ASN][1000 genomes]
rs61432409	1.00[ASN][1000 genomes]
rs7775270	1.00[ASN][1000 genomes]
rs9470951	1.00[ASN][1000 genomes]
rs9470991	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12161400-12175800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:12164000-12173200	Weak transcription	NH-A	brain
3	chr6:12164200-12174200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:12164200-12174800	Weak transcription	HMEC	breast
5	chr6:12164400-12174800	Weak transcription	NHEK	skin
6	chr6:12164600-12171000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:12164600-12171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:12164600-12172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:12164600-12172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:12164600-12173800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:12164600-12174000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:12164600-12175800	Weak transcription	HSMMtube	muscle
13	chr6:12164600-12176000	Weak transcription	Gastric	stomach
14	chr6:12164800-12171000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:12164800-12171200	Weak transcription	Fetal Brain Female	brain
16	chr6:12164800-12171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:12164800-12171800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:12164800-12173400	Weak transcription	Fetal Kidney	kidney
19	chr6:12164800-12174000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:12164800-12175000	Weak transcription	NHDF-Ad	bronchial
21	chr6:12164800-12175200	Weak transcription	HSMM	muscle
22	chr6:12164800-12179800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:12164800-12180200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:12164800-12185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:12165000-12171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:12165000-12171200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:12165000-12171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:12165600-12174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:12166000-12174800	Weak transcription	A549	lung
30	chr6:12166200-12171000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:12166200-12174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:12170400-12171000	Enhancers	Fetal Muscle Leg	muscle
33	chr6:12170400-12172600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:12170400-12172600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:12170600-12171000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr6:12170600-12171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:12170600-12171200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:12170600-12171200	Enhancers	Adipose Nuclei	Adipose
39	chr6:12170600-12171200	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:12170600-12173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:12170800-12171000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:12170800-12171000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:12170800-12171000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:12170800-12171000	Enhancers	Liver	Liver
45	chr6:12170800-12171000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:12170800-12171200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:12170800-12171400	Enhancers	Primary monocytes fromperipheralblood	blood

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