Variant report

Variant	rs11993479
Chromosome Location	chr8:61443969-61443970
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61429630..61431593-chr8:61443354..61445329,3	K562	blood:
2	chr8:61429558..61431582-chr8:61442478..61445691,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11987507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989127	1.00[AMR][1000 genomes]
rs11992608	1.00[AMR][1000 genomes]
rs11994058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1534849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55896615	1.00[AMR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv972537	chr8:61443763-61449601	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
6	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
9	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:61434800-61458000	Weak transcription	Dnd41	blood
14	chr8:61434800-61480600	Weak transcription	HMEC	breast
15	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:61435400-61470800	Weak transcription	NHEK	skin
17	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:61435600-61446600	Weak transcription	A549	lung
19	chr8:61436800-61446600	Weak transcription	Hela-S3	cervix
20	chr8:61436800-61447000	Weak transcription	HepG2	liver
21	chr8:61437000-61445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:61437000-61450200	Weak transcription	Fetal Stomach	stomach
23	chr8:61437200-61444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:61437200-61462600	Weak transcription	NH-A	brain
25	chr8:61437400-61447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:61437400-61463200	Weak transcription	HSMM	muscle
27	chr8:61437600-61446800	Weak transcription	NHDF-Ad	bronchial
28	chr8:61437600-61451000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:61437800-61446800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:61437800-61447000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:61438000-61445000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:61438000-61446800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:61438000-61449800	Weak transcription	Aorta	Aorta
34	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
35	chr8:61438200-61445000	Weak transcription	Brain Germinal Matrix	brain
36	chr8:61438200-61446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:61438200-61450800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:61438400-61446600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:61438800-61444200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:61439000-61453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:61439400-61455800	Weak transcription	Fetal Thymus	thymus
43	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:61439600-61448800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:61440000-61449800	Weak transcription	Esophagus	oesophagus
46	chr8:61440200-61444000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:61440200-61444400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:61440200-61444600	Weak transcription	Pancreas	Pancrea
49	chr8:61440200-61445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:61440200-61446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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