Variant report

Variant	rs7570829
Chromosome Location	chr2:39960180-39960181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17024238	1.00[EUR][1000 genomes]
rs17024328	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4670961	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs59757140	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61123958	1.00[EUR][1000 genomes]
rs6544240	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS 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	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
3	chr2:39948200-39961200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:39949000-39960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
6	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39951400-39960200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:39951400-39961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:39951400-39961800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:39951400-39962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:39952200-39960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
16	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:39952800-39960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
19	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:39955800-39960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:39956000-39962800	Weak transcription	HUVEC	blood vessel
23	chr2:39956200-39960400	Weak transcription	GM12878-XiMat	blood
24	chr2:39956200-39962200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
26	chr2:39956400-39962600	Weak transcription	Placenta	Placenta
27	chr2:39956600-39960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:39956600-39962000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:39956600-39962000	Weak transcription	NH-A	brain
30	chr2:39956600-39962800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:39956600-39963400	Weak transcription	Ovary	ovary
32	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:39957200-39960800	Genic enhancers	HSMMtube	muscle
34	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
35	chr2:39957600-39960600	Strong transcription	Fetal Brain Female	brain
36	chr2:39957600-39960800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:39957600-39960800	Strong transcription	Fetal Stomach	stomach
38	chr2:39957600-39963200	Strong transcription	Fetal Lung	lung
39	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:39957800-39960400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:39957800-39960600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:39957800-39962400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:39958000-39961200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:39958400-39963800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:39958600-39960200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:39958600-39960200	Weak transcription	Liver	Liver
47	chr2:39958600-39960600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:39958600-39962600	Weak transcription	Hela-S3	cervix
49	chr2:39958800-39960200	Enhancers	Left Ventricle	heart
50	chr2:39958800-39960600	Enhancers	Psoas Muscle	Psoas

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