Variant report

Variant	rs2268074
Chromosome Location	chr7:121729428-121729429
allele	C/T
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	chr7:121726797-121732001	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:121729344-121730364	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121728698..121731456-chr7:121744807..121746663,2	K562	blood:

Variant related genes	Relation type
AASS	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10246429	1.00[ASN][1000 genomes]
rs10253893	0.88[ASN][1000 genomes]
rs1147488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1147499	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1147500	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1147503	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1196500	1.00[CHB][hapmap]
rs1206384	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12666197	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12669983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12671513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12674287	0.92[ASN][1000 genomes]
rs1916872	0.82[CHB][hapmap]
rs2215359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs279691	0.82[ASN][1000 genomes]
rs28579799	0.88[ASN][1000 genomes]
rs28730482	0.88[ASN][1000 genomes]
rs73426035	0.92[ASN][1000 genomes]
rs73440967	0.88[ASN][1000 genomes]
rs940422	1.00[CHB][hapmap];0.84[JPT][hapmap]

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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121684400-121734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:121713600-121732000	Strong transcription	Liver	Liver
5	chr7:121713800-121731800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr7:121714200-121733000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:121714800-121733200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:121715200-121730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:121715200-121733200	Weak transcription	NHLF	lung
10	chr7:121715200-121740200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:121715400-121752000	Weak transcription	NH-A	brain
12	chr7:121715800-121735200	Weak transcription	Spleen	Spleen
13	chr7:121716000-121731800	Strong transcription	Left Ventricle	heart
14	chr7:121716000-121738400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:121716000-121772000	Weak transcription	Osteobl	bone
16	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:121716200-121733000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:121716200-121741000	Weak transcription	HSMM	muscle
19	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:121717600-121743200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:121717800-121744400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:121718000-121740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:121718000-121746800	Weak transcription	Brain Anterior Caudate	brain
24	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
25	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
28	chr7:121718200-121731400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
30	chr7:121718600-121733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:121718600-121742200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:121718800-121738200	Weak transcription	Fetal Intestine Small	intestine
33	chr7:121719000-121741800	Weak transcription	Psoas Muscle	Psoas
34	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:121719400-121743200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:121719400-121747400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:121719600-121731200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:121719800-121743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:121719800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:121721000-121729800	Weak transcription	Fetal Kidney	kidney
41	chr7:121721600-121741000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
43	chr7:121723400-121743000	Weak transcription	Fetal Heart	heart
44	chr7:121723600-121731800	Strong transcription	Ovary	ovary
45	chr7:121723800-121729800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:121724000-121731400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:121725200-121729600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:121725400-121740400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:121725600-121730000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:121725600-121734400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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