Variant report

Variant	rs1374714
Chromosome Location	chr2:205414823-205414824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205409104..205411748-chr2:205413969..205415961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12622755	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1374713	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1838995	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1978368	0.84[EUR][1000 genomes]
rs4675468	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs989629	0.82[CHB][hapmap]

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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411200-205415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:205411200-205416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:205411400-205415000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:205411400-205415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:205411400-205415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:205411400-205415400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:205411400-205415400	Weak transcription	Stomach Mucosa	stomach
8	chr2:205411400-205415800	Weak transcription	Lung	lung
9	chr2:205411400-205415800	Weak transcription	Small Intestine	intestine
10	chr2:205411400-205416200	Weak transcription	Gastric	stomach
11	chr2:205411400-205416800	Weak transcription	Pancreas	Pancrea
12	chr2:205411600-205415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:205411600-205415000	Weak transcription	Fetal Stomach	stomach
14	chr2:205411600-205415000	Weak transcription	NHEK	skin
15	chr2:205411600-205415400	Weak transcription	NH-A	brain
16	chr2:205411600-205417000	Weak transcription	Psoas Muscle	Psoas
17	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
19	chr2:205411800-205415000	Weak transcription	Fetal Heart	heart
20	chr2:205411800-205415000	Weak transcription	Ovary	ovary
21	chr2:205411800-205415600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:205411800-205415600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:205411800-205416000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:205412000-205415200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:205412000-205415400	Weak transcription	HSMMtube	muscle
27	chr2:205412000-205415800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:205412000-205417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
31	chr2:205412200-205415400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:205412200-205415400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:205412200-205416200	Weak transcription	Right Atrium	heart
34	chr2:205412400-205415200	Weak transcription	Fetal Kidney	kidney
35	chr2:205412400-205417600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:205413200-205417200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:205413600-205417000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:205413800-205415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:205413800-205416600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:205414000-205415400	Enhancers	NHLF	lung
41	chr2:205414000-205415600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:205414200-205415400	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:205414200-205416200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:205414200-205416400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:205414400-205415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:205414400-205415000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:205414400-205415400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:205414400-205415400	Enhancers	NHDF-Ad	bronchial
49	chr2:205414400-205415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:205414400-205416000	Enhancers	Brain Anterior Caudate	brain

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