Variant report

Variant	rs7951020
Chromosome Location	chr11:36444395-36444396
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	chr11:36440873..36443733-chr11:36444018..36446681,2	K562	blood:
2	chr11:36432501..36434246-chr11:36442338..36444522,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10501154	0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10501155	0.91[CHB][hapmap];0.81[GIH][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10836555	0.80[GIH][hapmap]
rs10836556	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10836560	0.81[ASW][hapmap];0.90[YRI][hapmap]
rs10836561	0.81[ASW][hapmap];0.90[YRI][hapmap]
rs11033617	0.81[LWK][hapmap];0.90[YRI][hapmap]
rs12223629	0.86[YRI][hapmap]
rs1863397	0.90[YRI][hapmap]
rs2422251	0.82[YRI][hapmap]
rs577054	0.86[YRI][hapmap]
rs7117655	0.81[GIH][hapmap]
rs744895	0.82[YRI][hapmap]
rs744896	0.82[YRI][hapmap]
rs746761	0.86[CHB][hapmap]
rs746762	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs746763	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs750940	0.86[YRI][hapmap]
rs754005	0.81[ASW][hapmap];0.82[MEX][hapmap];0.86[YRI][hapmap]
rs7945831	0.86[YRI][hapmap]
rs7952013	0.82[YRI][hapmap]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7951020	EIF3M	cis	cerebellum	SCAN
rs7951020	CD59	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
10	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:36439400-36445600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:36439600-36447000	Weak transcription	Primary B cells from cord blood	blood
18	chr11:36440600-36444600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:36440800-36445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:36440800-36445200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:36441000-36444800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:36441000-36447000	Weak transcription	Ovary	ovary
24	chr11:36441000-36447200	Weak transcription	Spleen	Spleen
25	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:36441200-36447400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:36441400-36444600	Enhancers	Hela-S3	cervix
28	chr11:36441600-36444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:36441600-36445000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:36441600-36445000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:36441800-36444400	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:36441800-36444400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr11:36441800-36444400	Enhancers	NHLF	lung
34	chr11:36442200-36451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:36442600-36449400	Weak transcription	Right Atrium	heart
36	chr11:36442600-36451200	Weak transcription	NHEK	skin
37	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:36442800-36447200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:36443000-36444400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:36443000-36447400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:36443200-36444400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:36443400-36444400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:36443400-36446800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:36443400-36447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:36443400-36447000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:36443400-36448200	Weak transcription	A549	lung
48	chr11:36443600-36445000	Weak transcription	HSMMtube	muscle
49	chr11:36443600-36445800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:36443600-36447000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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