Variant report

Variant	rs10502262
Chromosome Location	chr11:121415312-121415313
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	chr11:121410810..121412961-chr11:121413789..121415504,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1699105	1.00[CHB][hapmap]
rs2276346	0.82[MKK][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	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10502262	C2CD2L	cis	cerebellum	SCAN
rs10502262	OR8B8	cis	parietal	SCAN
rs10502262	USP2	cis	cerebellum	SCAN
rs10502262	ARHGEF12	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121385600-121418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:121393600-121415400	Weak transcription	Colonic Mucosa	Colon
4	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:121395400-121424600	Weak transcription	Gastric	stomach
6	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:121396800-121415400	Weak transcription	Fetal Stomach	stomach
9	chr11:121396800-121417400	Weak transcription	Aorta	Aorta
10	chr11:121396800-121425400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
12	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:121404600-121437200	Weak transcription	Lung	lung
14	chr11:121404800-121417400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:121405400-121421000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:121405800-121420800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:121406200-121417400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:121406200-121423400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:121408800-121416800	Weak transcription	Fetal Brain Female	brain
22	chr11:121409800-121420800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:121409800-121423800	Strong transcription	Liver	Liver
24	chr11:121410000-121424600	Weak transcription	Ovary	ovary
25	chr11:121411400-121417000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:121411400-121419000	Strong transcription	HepG2	liver
27	chr11:121411800-121433600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:121412200-121420200	Weak transcription	HMEC	breast
29	chr11:121412400-121419000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:121412800-121435200	Weak transcription	Small Intestine	intestine
31	chr11:121413600-121416200	Enhancers	Fetal Brain Male	brain
32	chr11:121413600-121429400	Weak transcription	Left Ventricle	heart
33	chr11:121414000-121415400	Strong transcription	Esophagus	oesophagus
34	chr11:121414000-121416400	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr11:121414000-121416400	Strong transcription	Fetal Intestine Small	intestine
36	chr11:121414000-121416600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:121414000-121416800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr11:121414000-121417200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:121414000-121417600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:121414000-121417800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:121414000-121418400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:121414000-121418600	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr11:121414000-121418600	Strong transcription	Fetal Intestine Large	intestine
44	chr11:121414000-121418600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:121414000-121418800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:121414000-121419000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:121414000-121419200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr11:121414000-121421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:121414000-121433600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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