Variant report

Variant	rs7950735
Chromosome Location	chr11:85966177-85966178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85957956..85960491-chr11:85965054..85967049,2	K562	blood:
2	chr11:85965815..85967521-chr11:85980737..85982478,2	K562	blood:
3	chr11:85953211..85960614-chr11:85961214..85967523,10	K562	blood:
4	chr11:85954708..85957373-chr11:85965318..85967764,3	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10792839	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898451	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234584	0.90[CEU][hapmap]
rs1466802	0.90[CEU][hapmap]
rs1466803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472422	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2374721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844145	0.90[CEU][hapmap]
rs3851186	0.83[EUR][1000 genomes]
rs3851189	0.86[EUR][1000 genomes]
rs6592278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128259	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7925413	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929518	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947529	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952481	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7950735	C11orf73	cis	cerebellum	SCAN
rs7950735	C1QA	trans	cerebellum	SCAN
rs7950735	EED	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957200-85972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85957200-85972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:85957200-85972400	Weak transcription	Esophagus	oesophagus
4	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:85957400-85967600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
8	chr11:85957800-85967800	Weak transcription	Thymus	Thymus
9	chr11:85957800-85968000	Weak transcription	HSMMtube	muscle
10	chr11:85957800-85968600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:85957800-85968600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
13	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:85958400-85966200	Weak transcription	NH-A	brain
15	chr11:85958400-85966400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:85958400-85972400	Weak transcription	Aorta	Aorta
17	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
18	chr11:85958800-85967000	Weak transcription	HSMM	muscle
19	chr11:85959200-85967000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:85959200-85967000	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:85959200-85967800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:85959200-85974000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:85959400-85967400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:85960000-85968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:85960000-85970800	Weak transcription	Fetal Brain Female	brain
30	chr11:85960000-85972400	Weak transcription	Pancreas	Pancrea
31	chr11:85960200-85966800	Weak transcription	Liver	Liver
32	chr11:85960200-85967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:85960200-85967200	Weak transcription	HepG2	liver
34	chr11:85960200-85967400	Weak transcription	Left Ventricle	heart
35	chr11:85960200-85967400	Weak transcription	HMEC	breast
36	chr11:85960200-85968000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:85960200-85968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:85960200-85972800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:85960200-85985600	Weak transcription	Gastric	stomach
40	chr11:85960600-85966400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:85960600-85967400	Weak transcription	HUVEC	blood vessel
42	chr11:85960600-85972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:85960800-85967000	Weak transcription	Adipose Nuclei	Adipose
44	chr11:85960800-85972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:85960800-85988000	Weak transcription	Fetal Heart	heart
46	chr11:85961000-85967400	Weak transcription	Fetal Kidney	kidney
47	chr11:85961000-85968000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:85961000-85968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:85961000-85972200	Weak transcription	Ovary	ovary
50	chr11:85961000-85972400	Weak transcription	Right Ventricle	heart

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