Variant report

Variant	rs2224932
Chromosome Location	chr1:157984869-157984870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:157984297..157985914-chr1:157988656..157990593,2	MCF-7	breast:
2	chr1:157984151..157985923-chr1:157986996..157989537,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10796988	1.00[CEU][hapmap]
rs12021619	0.82[CHB][hapmap]
rs12037357	0.84[JPT][hapmap]
rs17418759	1.00[CEU][hapmap]
rs1925038	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4445460	0.84[JPT][hapmap]
rs4971173	0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs4971174	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4971177	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs5018263	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6666443	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7521855	1.00[CEU][hapmap]
rs7527643	1.00[CEU][hapmap]
rs7537784	0.92[JPT][hapmap]
rs7549283	1.00[CEU][hapmap]
rs7555783	0.84[JPT][hapmap]
rs9628667	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157969000-157988000	Weak transcription	Psoas Muscle	Psoas
2	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:157979800-157991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:157981200-157985400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:157981200-157987200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:157981400-157985400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:157981600-157985600	Enhancers	NH-A	brain
8	chr1:157981600-157986600	Weak transcription	Pancreas	Pancrea
9	chr1:157981600-157988200	Weak transcription	Right Ventricle	heart
10	chr1:157981800-157985600	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:157981800-157986600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:157981800-157988000	Weak transcription	Colonic Mucosa	Colon
13	chr1:157982000-157985400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:157982000-157985400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:157982000-157985600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:157982200-157985400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:157982200-157986400	Weak transcription	Spleen	Spleen
18	chr1:157982200-157987800	Weak transcription	Fetal Heart	heart
19	chr1:157982200-157988200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:157982200-157989200	Enhancers	Osteobl	bone
21	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:157982600-157985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:157982800-157985400	Genic enhancers	HSMM	muscle
24	chr1:157982800-157985600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:157982800-157986200	Weak transcription	HUVEC	blood vessel
26	chr1:157983000-157985400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:157983000-157985400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:157983000-157985400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:157983000-157985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:157983000-157985600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:157983000-157985600	Genic enhancers	HMEC	breast
32	chr1:157983000-157987000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:157983200-157985200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:157983200-157985400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:157983200-157985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:157983200-157989000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:157983400-157985200	Enhancers	Esophagus	oesophagus
38	chr1:157983400-157985200	Enhancers	Fetal Thymus	thymus
39	chr1:157983400-157985200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:157983400-157985400	Enhancers	Fetal Muscle Leg	muscle
41	chr1:157983400-157985600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:157983400-157985800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:157983400-157986400	Enhancers	A549	lung
44	chr1:157983400-157989200	Enhancers	Adipose Nuclei	Adipose
45	chr1:157983600-157985400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:157983600-157985600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:157983600-157985600	Enhancers	Placenta	Placenta
48	chr1:157983600-157986400	Enhancers	NHDF-Ad	bronchial
49	chr1:157983600-157987400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:157983600-157989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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