Variant report

Variant	rs11694175
Chromosome Location	chr2:182338027-182338028
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	chr2:182331462..182333295-chr2:182337334..182339733,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10172410	0.86[JPT][hapmap];0.96[YRI][hapmap]
rs155093	0.82[EUR][1000 genomes]
rs155094	0.82[EUR][1000 genomes]
rs155100	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs155102	0.82[EUR][1000 genomes]
rs155104	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs155106	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2305591	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59803867	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694175	CCDC141	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182324600-182340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:182328000-182346400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:182331000-182347200	Weak transcription	NH-A	brain
7	chr2:182331400-182344800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:182331400-182363400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:182331400-182382200	Weak transcription	HMEC	breast
10	chr2:182331800-182339800	Weak transcription	HSMM	muscle
11	chr2:182332200-182349200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:182332200-182353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:182333000-182340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:182333600-182338200	Weak transcription	NHDF-Ad	bronchial
15	chr2:182334600-182339800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:182335000-182338200	Genic enhancers	Primary T cells from cord blood	blood
18	chr2:182335000-182338200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:182335000-182338200	Genic enhancers	Fetal Thymus	thymus
20	chr2:182335000-182338400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:182335000-182338600	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr2:182335000-182338600	Genic enhancers	Primary hematopoietic stem cells	blood
23	chr2:182335000-182339000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:182335000-182339400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
26	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:182335200-182356200	Weak transcription	Gastric	stomach
28	chr2:182335400-182338600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:182335400-182340000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:182335600-182339200	Genic enhancers	Dnd41	blood
31	chr2:182336400-182338400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:182336800-182346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
34	chr2:182337000-182354000	Strong transcription	Primary B cells from cord blood	blood
35	chr2:182337600-182338200	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr2:182337600-182338200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:182337600-182338200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:182337600-182338400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:182337600-182338600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:182337600-182338600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:182337600-182338600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:182337600-182340000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:182337600-182342400	Strong transcription	HSMMtube	muscle
44	chr2:182337800-182338200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:182337800-182338200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:182337800-182338200	Enhancers	Colonic Mucosa	Colon
47	chr2:182337800-182338600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:182337800-182338600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr2:182337800-182338800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:182337800-182340000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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