Variant report

Variant	rs11635537
Chromosome Location	chr15:40314191-40314192
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	chr15:40313947..40315649-chr15:40329559..40331258,2	K562	blood:
2	chr15:40314138..40317117-chr15:40317356..40320550,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-5	chr15:40313744-40314806	NONHSAT041785

Variant related genes	Relation type
ENSG00000140319	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11629915	0.94[ASN][1000 genomes]
rs11635600	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903784	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279579	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412463	0.95[ASN][1000 genomes]
rs2898973	0.94[ASN][1000 genomes]
rs3207297	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697496	0.81[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3335428	chr15:40314068-40314402	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11635537	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
3	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
4	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40303000-40329600	Strong transcription	Liver	Liver
6	chr15:40303800-40320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:40306800-40315200	Strong transcription	NHEK	skin
9	chr15:40306800-40319200	Strong transcription	Fetal Intestine Large	intestine
10	chr15:40306800-40319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
12	chr15:40306800-40329800	Strong transcription	Osteobl	bone
13	chr15:40307000-40315000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:40307000-40315400	Strong transcription	Fetal Stomach	stomach
15	chr15:40307000-40318600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:40307200-40315400	Strong transcription	Fetal Muscle Leg	muscle
19	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40307400-40326800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:40307600-40314800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr15:40307600-40314800	Strong transcription	Placenta	Placenta
24	chr15:40307600-40317400	Strong transcription	HUVEC	blood vessel
25	chr15:40307600-40319000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:40307600-40326200	Strong transcription	HSMM	muscle
27	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr15:40307600-40329200	Strong transcription	HMEC	breast
29	chr15:40307800-40315400	Strong transcription	Fetal Intestine Small	intestine
30	chr15:40307800-40329600	Strong transcription	NH-A	brain
31	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:40308000-40329000	Strong transcription	HepG2	liver
33	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
35	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:40308200-40315000	Strong transcription	Lung	lung
37	chr15:40308200-40318200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:40308200-40319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr15:40308400-40315600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:40309000-40318800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:40309600-40315000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:40309800-40314400	Strong transcription	Right Ventricle	heart
48	chr15:40310000-40326400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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