Variant report

Variant	rs7607747
Chromosome Location	chr2:153409186-153409187
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	chr2:153408400..153410270-chr2:153573794..153576131,2	K562	blood:

Variant related genes	Relation type
ENSG00000177917	Chromatin interaction
ENSG00000196504	Chromatin interaction

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

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

rs_ID	r²[population]
rs10497106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11892222	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1370500	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1370501	0.97[ASN][1000 genomes]
rs16823809	0.80[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs60447103	0.86[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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:153399400-153414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:153399600-153411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:153399600-153415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:153399600-153415400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:153399600-153415800	Weak transcription	Aorta	Aorta
9	chr2:153400000-153414000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:153400000-153415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:153400000-153420800	Weak transcription	Hela-S3	cervix
12	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:153400200-153410600	Weak transcription	HSMMtube	muscle
15	chr2:153400200-153415400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:153400400-153411200	Weak transcription	A549	lung
17	chr2:153400600-153411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:153400600-153415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:153401600-153417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:153402200-153411600	Weak transcription	Fetal Brain Male	brain
23	chr2:153402200-153427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:153402400-153427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:153403200-153415200	Weak transcription	Placenta	Placenta
26	chr2:153403200-153448000	Weak transcription	Lung	lung
27	chr2:153403600-153418800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:153404000-153415800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:153404200-153411600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:153404200-153415200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:153404200-153415400	Weak transcription	Fetal Brain Female	brain
32	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:153404400-153415800	Weak transcription	Fetal Stomach	stomach
34	chr2:153404800-153420000	Weak transcription	Esophagus	oesophagus
35	chr2:153404800-153425800	Weak transcription	Gastric	stomach
36	chr2:153405000-153411400	Weak transcription	Fetal Lung	lung
37	chr2:153405000-153412800	Weak transcription	Psoas Muscle	Psoas
38	chr2:153405000-153413800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:153405000-153416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:153405200-153409400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:153405200-153411600	Weak transcription	Small Intestine	intestine
42	chr2:153405200-153412000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:153405200-153415200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:153405200-153415800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:153405200-153415800	Weak transcription	Left Ventricle	heart
46	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:153405400-153411400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:153405400-153417400	Weak transcription	Adipose Nuclei	Adipose
49	chr2:153405400-153418800	Weak transcription	Ovary	ovary
50	chr2:153406000-153409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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