Variant report

Variant	rs7928738
Chromosome Location	chr11:9622111-9622112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9620438..9623040-chr11:9627424..9629969,2	K562	blood:
2	chr11:9616144..9619684-chr11:9621223..9625658,6	K562	blood:

Variant related genes	Relation type
ENSG00000243964	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11042437	0.86[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042439	0.86[GIH][hapmap];0.82[TSI][hapmap]
rs11042440	0.86[GIH][hapmap];0.82[TSI][hapmap]
rs11042441	0.86[GIH][hapmap];0.82[TSI][hapmap]
rs11042446	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11601647	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12422111	0.81[GIH][hapmap]
rs7937029	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7928738	MICAL2	cis	parietal	SCAN
rs7928738	SH2D4A	trans	cerebellum	SCAN
rs7928738	MRPL17	cis	cerebellum	SCAN
rs7928738	OR2D2	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
2	chr11:9599600-9622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:9599800-9622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:9601400-9622600	Weak transcription	Right Atrium	heart
5	chr11:9601600-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:9607000-9622400	Weak transcription	Small Intestine	intestine
7	chr11:9607800-9622600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:9610200-9622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:9610600-9622200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:9610600-9622200	Weak transcription	Lung	lung
11	chr11:9610600-9622600	Weak transcription	Colonic Mucosa	Colon
12	chr11:9610600-9622600	Weak transcription	Esophagus	oesophagus
13	chr11:9610600-9622600	Weak transcription	Thymus	Thymus
14	chr11:9610600-9622800	Weak transcription	Right Ventricle	heart
15	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
17	chr11:9610800-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:9610800-9622200	Weak transcription	Adipose Nuclei	Adipose
19	chr11:9610800-9622600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:9610800-9622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:9611000-9622200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:9611000-9622600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:9611200-9622600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:9611200-9622600	Weak transcription	K562	blood
25	chr11:9611200-9622800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:9611400-9622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:9611400-9623400	Weak transcription	Fetal Lung	lung
28	chr11:9611600-9622200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:9611600-9622400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:9611600-9622600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:9611600-9622600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:9611800-9622200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:9611800-9622600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9612000-9623200	Weak transcription	Liver	Liver
35	chr11:9612200-9622600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9612200-9622800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:9612200-9622800	Weak transcription	Fetal Intestine Small	intestine
38	chr11:9612400-9622200	Weak transcription	Fetal Thymus	thymus
39	chr11:9612400-9622200	Weak transcription	HSMM	muscle
40	chr11:9612400-9622600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:9612400-9622600	Weak transcription	Fetal Intestine Large	intestine
42	chr11:9612400-9622800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:9612600-9622600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9612600-9623000	Weak transcription	HUVEC	blood vessel
45	chr11:9613000-9622600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:9616200-9622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:9616800-9622200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:9616800-9622200	Weak transcription	NHLF	lung
49	chr11:9616800-9622800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:9617000-9622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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