Variant report

Variant	rs11996808
Chromosome Location	chr8:61434836-61434837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61424485..61426842-chr8:61433809..61435349,2	K562	blood:
2	chr8:61429552..61431450-chr8:61433854..61436279,2	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989127	1.00[AMR][1000 genomes]
rs11992608	1.00[AMR][1000 genomes]
rs11993479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1534849	0.87[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	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:61431800-61435600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:61432000-61435400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:61432000-61435600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:61432000-61440200	Enhancers	Liver	Liver
14	chr8:61432200-61435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:61432200-61435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:61432200-61435400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:61432200-61435400	Enhancers	HepG2	liver
18	chr8:61432200-61435400	Enhancers	NHEK	skin
19	chr8:61432200-61436000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:61432200-61436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:61432400-61435400	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:61432600-61435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:61432600-61435000	Enhancers	Brain Anterior Caudate	brain
25	chr8:61432600-61435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:61432600-61435400	Enhancers	NH-A	brain
27	chr8:61432600-61435600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:61432600-61436600	Weak transcription	Fetal Brain Male	brain
29	chr8:61432600-61436600	Weak transcription	Fetal Stomach	stomach
30	chr8:61432600-61437400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
33	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:61432800-61435400	Enhancers	Right Ventricle	heart
35	chr8:61432800-61436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:61432800-61437400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:61432800-61437800	Enhancers	Osteobl	bone
38	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:61433000-61435000	Enhancers	Ovary	ovary
40	chr8:61433000-61435000	Enhancers	HSMMtube	muscle
41	chr8:61433000-61435400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:61433000-61435400	Enhancers	Stomach Smooth Muscle	stomach
43	chr8:61433000-61435600	Enhancers	A549	lung
44	chr8:61433000-61437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:61433000-61438400	Enhancers	Fetal Heart	heart
46	chr8:61433200-61435000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:61433200-61436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:61433200-61436800	Weak transcription	Fetal Brain Female	brain
49	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
50	chr8:61433400-61435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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