Variant report

Variant	rs11902595
Chromosome Location	chr2:48683746-48683747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48676938..48678484-chr2:48681452..48684358,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11893741	0.80[TSI][hapmap]
rs13021354	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34901329	0.87[AMR][1000 genomes]
rs4552233	0.88[CEU][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6707615	0.84[LWK][hapmap];0.94[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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11902595	UNQ6975	cis	cerebellum	SCAN
rs11902595	PRKCE	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
3	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
4	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
5	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:48673000-48686800	Weak transcription	Pancreas	Pancrea
7	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:48674800-48687000	Weak transcription	Small Intestine	intestine
10	chr2:48675800-48687800	Weak transcription	Fetal Kidney	kidney
11	chr2:48676200-48686600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
13	chr2:48676800-48685000	Weak transcription	HSMM	muscle
14	chr2:48676800-48688000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:48677600-48685200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:48677600-48686800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:48677800-48687200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:48678200-48683800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:48678200-48688000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
24	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:48678400-48688200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:48678400-48688600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:48678400-48695600	Strong transcription	Dnd41	blood
28	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:48678800-48684600	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:48679000-48684400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:48679000-48688000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:48679200-48686800	Weak transcription	Stomach Mucosa	stomach
39	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
41	chr2:48679400-48687000	Weak transcription	HSMMtube	muscle
42	chr2:48679600-48684400	Strong transcription	Left Ventricle	heart
43	chr2:48679600-48685000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:48679600-48693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
46	chr2:48680000-48684000	Strong transcription	Fetal Intestine Small	intestine
47	chr2:48680000-48684000	Strong transcription	Fetal Stomach	stomach
48	chr2:48680000-48685000	Weak transcription	K562	blood
49	chr2:48680000-48686800	Weak transcription	NH-A	brain
50	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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