Variant report

Variant	rs4832007
Chromosome Location	chr2:85972406-85972407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85971555..85973633-chr2:85979812..85981943,2	K562	blood:
2	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
3	chr2:85972115..85974946-chr2:85980100..85981660,2	MCF-7	breast:
4	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1111527	0.93[CEU][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs11126998	0.93[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs13430978	0.80[ASN][1000 genomes]
rs1356621	0.93[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1356622	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1356623	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1356624	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1465822	0.93[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs1465823	0.93[CEU][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1473275	0.93[CEU][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1568310	0.93[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes]
rs2118401	0.93[CEU][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2176625	0.86[EUR][1000 genomes]
rs2366816	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4832006	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4832008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832188	0.87[EUR][1000 genomes]
rs4832190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727520	0.94[EUR][1000 genomes]
rs6735639	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6735655	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs732155	0.93[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes]
rs7557287	0.83[ASN][1000 genomes]
rs7567852	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85968000-85972600	Enhancers	Fetal Muscle Trunk	muscle
3	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
4	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
6	chr2:85968200-85974200	Enhancers	Right Atrium	heart
7	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:85969000-85972600	Enhancers	Fetal Stomach	stomach
9	chr2:85969200-85972800	Enhancers	Fetal Kidney	kidney
10	chr2:85969600-85972800	Enhancers	Liver	Liver
11	chr2:85969600-85973000	Enhancers	NH-A	brain
12	chr2:85969600-85973600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:85969800-85972800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:85969800-85973000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
17	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr2:85970200-85972600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:85970200-85973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:85970400-85973400	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:85970400-85973400	Weak transcription	Thymus	Thymus
22	chr2:85970400-85974000	Enhancers	Fetal Lung	lung
23	chr2:85970400-85974000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:85971000-85973000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:85971000-85973000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:85971200-85974200	Enhancers	A549	lung
27	chr2:85971400-85972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:85971400-85972800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr2:85971400-85973200	Enhancers	Fetal Heart	heart
30	chr2:85971400-85973400	Weak transcription	Esophagus	oesophagus
31	chr2:85971600-85972600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:85971600-85972800	Weak transcription	Aorta	Aorta
33	chr2:85971600-85972800	Weak transcription	Psoas Muscle	Psoas
34	chr2:85971600-85972800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:85971600-85973400	Weak transcription	Spleen	Spleen
36	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
38	chr2:85971800-85973000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:85971800-85973000	Enhancers	Brain Germinal Matrix	brain
40	chr2:85971800-85973000	Bivalent Enhancer	Fetal Thymus	thymus
41	chr2:85972000-85972800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:85972000-85972800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:85972000-85972800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:85972000-85972800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:85972000-85972800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr2:85972000-85972800	Flanking Active TSS	HSMMtube	muscle
47	chr2:85972000-85973000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:85972000-85973000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:85972000-85973000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:85972000-85973000	Flanking Active TSS	Brain Anterior Caudate	brain

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