Variant report

Variant	rs2812710
Chromosome Location	chr6:80377842-80377843
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	chr6:80375563..80378458-chr6:80382282..80385126,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2655684	0.91[CHD][hapmap]
rs2812704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2812710	IRAK1BP1	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80360000-80378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:80365400-80378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80372600-80378800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
8	chr6:80373800-80378000	Weak transcription	Esophagus	oesophagus
9	chr6:80374000-80378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:80374000-80379800	Weak transcription	Colonic Mucosa	Colon
11	chr6:80374000-80381200	Weak transcription	Brain Anterior Caudate	brain
12	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
13	chr6:80374400-80380600	Weak transcription	K562	blood
14	chr6:80374400-80381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:80374400-80381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:80374400-80381400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:80374400-80383600	Weak transcription	Right Ventricle	heart
18	chr6:80374400-80386800	Weak transcription	Right Atrium	heart
19	chr6:80375600-80378400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:80375600-80378400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:80375600-80378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:80375800-80378800	Enhancers	Stomach Mucosa	stomach
23	chr6:80375800-80383600	Weak transcription	Fetal Kidney	kidney
24	chr6:80376000-80379600	Weak transcription	HUVEC	blood vessel
25	chr6:80376000-80381400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:80376000-80385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:80376200-80378000	Weak transcription	Left Ventricle	heart
28	chr6:80376200-80378000	Weak transcription	Lung	lung
29	chr6:80376200-80378200	Weak transcription	Fetal Lung	lung
30	chr6:80376200-80380600	Weak transcription	Gastric	stomach
31	chr6:80376200-80380600	Weak transcription	Pancreas	Pancrea
32	chr6:80376200-80380600	Weak transcription	Psoas Muscle	Psoas
33	chr6:80376200-80380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:80376200-80380800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:80376200-80381200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:80376200-80381400	Weak transcription	HSMM	muscle
37	chr6:80376200-80384200	Weak transcription	Brain Angular Gyrus	brain
38	chr6:80376400-80378000	Weak transcription	Fetal Intestine Large	intestine
39	chr6:80376400-80381000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:80376400-80381400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:80376400-80396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:80376400-80402000	Weak transcription	Brain Substantia Nigra	brain
43	chr6:80376600-80379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:80376600-80383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:80376800-80378400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:80377000-80378000	Weak transcription	HepG2	liver
47	chr6:80377000-80378600	Enhancers	Adipose Nuclei	Adipose
48	chr6:80377000-80385800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:80377200-80378200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:80377200-80379400	Weak transcription	Fetal Stomach	stomach

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