Variant report

Variant	rs9644774
Chromosome Location	chr8:8559832-8559833
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	chr15:56285724..56286656-chr8:8559373..8559873,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000069869	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1109618	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11773943	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11780824	0.82[ASN][1000 genomes]
rs11781841	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11783487	0.91[ASN][1000 genomes]
rs11783944	0.86[ASN][1000 genomes]
rs11783950	0.86[ASN][1000 genomes]
rs11785183	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11787172	0.91[ASN][1000 genomes]
rs13261926	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17154599	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17684466	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28663303	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28729565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36095989	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840353	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841012	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841013	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55711333	0.87[ASN][1000 genomes]
rs55840094	0.87[ASN][1000 genomes]
rs55874147	0.82[ASN][1000 genomes]
rs56094035	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56102083	0.87[ASN][1000 genomes]
rs56152067	0.82[ASN][1000 genomes]
rs56188408	0.82[ASN][1000 genomes]
rs68168815	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6994131	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002397	0.87[ASN][1000 genomes]
rs71537846	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73192442	0.87[ASN][1000 genomes]
rs73192443	0.87[ASN][1000 genomes]
rs73192444	0.87[ASN][1000 genomes]
rs7816329	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816427	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819167	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840561	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883647	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs940030	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs940031	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs940032	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	9 gene(s)	inside rSNPs	diseases
15	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1028237	chr8:8532992-8588470	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3425765	chr8:8559367-8561915	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9644774	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8558400-8560000	Active TSS	Fetal Lung	lung
2	chr8:8558400-8560000	Active TSS	Hela-S3	cervix
3	chr8:8558400-8560200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:8558400-8560200	Active TSS	A549	lung
5	chr8:8558400-8560200	Active TSS	NHLF	lung
6	chr8:8558400-8560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:8558400-8562800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:8558600-8560000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:8558600-8560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:8558600-8560000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:8558600-8560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:8558600-8560000	Active TSS	Brain Angular Gyrus	brain
13	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr8:8558600-8560000	Active TSS	Psoas Muscle	Psoas
16	chr8:8558600-8560000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr8:8558600-8560000	Bivalent/Poised TSS	NH-A	brain
18	chr8:8558600-8560000	Active TSS	NHDF-Ad	bronchial
19	chr8:8558600-8560200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:8558600-8560200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:8558600-8560200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:8558600-8560200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
25	chr8:8558600-8560200	Active TSS	Aorta	Aorta
26	chr8:8558600-8560200	Active TSS	Brain Substantia Nigra	brain
27	chr8:8558600-8560200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:8558600-8560200	Active TSS	Ovary	ovary
29	chr8:8558600-8560400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:8558600-8560600	Active TSS	Brain Anterior Caudate	brain
31	chr8:8558600-8560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:8558800-8560000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:8558800-8560000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:8558800-8560000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:8558800-8560000	Active TSS	Brain Cingulate Gyrus	brain
36	chr8:8558800-8560000	Active TSS	Esophagus	oesophagus
37	chr8:8558800-8560000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
38	chr8:8558800-8560000	Active TSS	Placenta	Placenta
39	chr8:8558800-8560000	Active TSS	Lung	lung
40	chr8:8558800-8560000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr8:8558800-8560000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr8:8558800-8560000	Active TSS	HSMM	muscle
43	chr8:8558800-8560200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:8558800-8560200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:8558800-8560400	Active TSS	Small Intestine	intestine
46	chr8:8558800-8560800	Active TSS	Stomach Mucosa	stomach
47	chr8:8559000-8560000	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr8:8559000-8560000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr8:8559000-8560000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:8559000-8560000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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