Variant report

Variant	rs61664338
Chromosome Location	chr2:189915813-189915814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189915072..189917343-chr2:189920617..189923059,2	K562	blood:
2	chr2:189914285..189915819-chr2:189918289..189921040,2	MCF-7	breast:
3	chr2:189914628..189916476-chr2:189916492..189919239,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56890909	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58099040	0.93[EUR][1000 genomes]
rs73051214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73051217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73051219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601063	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189917400	Weak transcription	Ovary	ovary
2	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
3	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
6	chr2:189895200-189940800	Strong transcription	HSMM	muscle
7	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
9	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
11	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:189897200-189934400	Weak transcription	Gastric	stomach
13	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:189897600-189934000	Weak transcription	Lung	lung
16	chr2:189898400-189938200	Weak transcription	HMEC	breast
17	chr2:189899000-189916000	Weak transcription	Aorta	Aorta
18	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:189901000-189919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
24	chr2:189902400-189921600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:189902600-189937000	Strong transcription	NH-A	brain
26	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:189904400-189916000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:189904400-189921200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:189904400-189926800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:189906000-189918000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:189906400-189925400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:189907800-189929200	Weak transcription	Liver	Liver
36	chr2:189908000-189916000	Weak transcription	Placenta	Placenta
37	chr2:189908000-189927800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:189909000-189921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:189909200-189936200	Weak transcription	Small Intestine	intestine
40	chr2:189909800-189919000	Strong transcription	NHDF-Ad	bronchial
41	chr2:189909800-189934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:189911400-189919600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:189911400-189926600	Strong transcription	HSMMtube	muscle
44	chr2:189911800-189923400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr2:189912000-189919000	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:189912000-189921600	Strong transcription	NHLF	lung
47	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:189912800-189931200	Weak transcription	Colonic Mucosa	Colon
49	chr2:189913600-189919000	Strong transcription	Fetal Lung	lung
50	chr2:189914000-189919000	Strong transcription	Fetal Intestine Large	intestine

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