Variant report

Variant	rs726215
Chromosome Location	chr2:179710973-179710974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179710510-179710995	H1-neurons	neurons:	n/a	n/a
2	REST	chr2:179710197-179711277	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr2:179710446-179710988	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
CCDC141	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10497521	0.91[GIH][hapmap];0.82[MEX][hapmap]
rs11681211	0.83[GIH][hapmap]
rs11693319	0.83[GIH][hapmap]
rs16866563	1.00[CEU][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62175451	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62175452	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62175453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62175455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6717039	0.82[CEU][hapmap]
rs6717160	0.82[CEU][hapmap]
rs6732126	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72957369	1.00[AMR][1000 genomes];0.96[EUR][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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521818	chr2:179710973-179713601	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
4	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179695800-179711000	Weak transcription	Right Ventricle	heart
8	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:179701800-179712000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:179701800-179712200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
13	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
14	chr2:179702400-179729200	Weak transcription	Lung	lung
15	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
17	chr2:179703400-179712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
20	chr2:179707800-179711200	Enhancers	Brain Germinal Matrix	brain
21	chr2:179708000-179711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
23	chr2:179708200-179712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:179708600-179711800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:179708800-179711200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:179709000-179711200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:179709000-179711400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:179709000-179711400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:179709000-179711400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:179709000-179711600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:179709000-179712000	Enhancers	HSMMtube	muscle
32	chr2:179709200-179711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:179709200-179711000	Enhancers	Fetal Brain Female	brain
34	chr2:179709200-179711200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:179709200-179711400	Enhancers	Fetal Brain Male	brain
36	chr2:179709200-179711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:179709200-179711600	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:179709200-179711600	Enhancers	HSMM	muscle
39	chr2:179709200-179711600	Enhancers	NHDF-Ad	bronchial
40	chr2:179709200-179711600	Enhancers	Osteobl	bone
41	chr2:179709400-179711000	Weak transcription	Left Ventricle	heart
42	chr2:179709400-179711200	Enhancers	NHLF	lung
43	chr2:179709400-179714800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:179709800-179711600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:179710000-179711200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:179710000-179711400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:179710000-179711400	Enhancers	NH-A	brain
48	chr2:179710000-179711600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:179710000-179714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:179710200-179711200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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