Variant report

Variant	rs2194196
Chromosome Location	chr5:57555333-57555334
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57550054..57551732-chr5:57553774..57557457,3	K562	blood:
2	chr5:57531620..57533585-chr5:57553744..57556130,2	MCF-7	breast:
3	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
4	chr5:57546757..57549531-chr5:57552284..57556177,4	MCF-7	breast:
5	chr5:57551727..57557881-chr5:57751726..57757187,9	MCF-7	breast:
6	chr5:57553683..57556320-chr5:57556923..57559469,3	MCF-7	breast:
7	chr5:57553536..57556295-chr5:57753554..57756650,6	MCF-7	breast:
8	chr5:57554637..57557710-chr5:57746924..57749357,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10036626	0.81[EUR][1000 genomes]
rs10037463	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10039548	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10040715	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10053213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066944	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10068496	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10069778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10069996	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10077937	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10472038	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10472043	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10472046	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12332617	0.89[EUR][1000 genomes]
rs12655438	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs154672	1.00[YRI][hapmap]
rs16887971	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16887976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2112901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194192	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28525674	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700264	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700265	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700270	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4700272	0.80[JPT][hapmap]
rs55718490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59448948	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62366313	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62366742	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62366744	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6874208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6887808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6889264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7706339	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9784640	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885152	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9885514	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57543000-57555600	Weak transcription	Right Atrium	heart
2	chr5:57552600-57557400	Weak transcription	Aorta	Aorta
3	chr5:57553800-57555600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:57553800-57556400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:57554200-57556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:57554400-57555600	Enhancers	HSMM	muscle
7	chr5:57554400-57556800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:57554400-57557800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:57554600-57555400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:57554600-57555600	Flanking Active TSS	A549	lung
11	chr5:57554600-57556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:57554800-57556000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:57554800-57556200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:57555000-57555400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:57555000-57555400	Enhancers	NH-A	brain
16	chr5:57555000-57556200	Flanking Active TSS	HMEC	breast
17	chr5:57555000-57556600	Enhancers	NHDF-Ad	bronchial
18	chr5:57555200-57555400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:57555200-57555400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:57555200-57555400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:57555200-57555400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:57555200-57555400	Flanking Active TSS	NHLF	lung
23	chr5:57555200-57555600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:57555200-57555600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:57555200-57555600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:57555200-57555800	Enhancers	Pancreas	Pancrea
27	chr5:57555200-57555800	Enhancers	Psoas Muscle	Psoas
28	chr5:57555200-57556000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:57555200-57556000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:57555200-57556000	Enhancers	Fetal Muscle Leg	muscle
31	chr5:57555200-57556000	Enhancers	Left Ventricle	heart
32	chr5:57555200-57556000	Flanking Active TSS	HUVEC	blood vessel
33	chr5:57555200-57556000	Flanking Active TSS	NHEK	skin
34	chr5:57555200-57556200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:57555200-57556200	Flanking Active TSS	Hela-S3	cervix
36	chr5:57555200-57556200	Flanking Active TSS	Osteobl	bone
37	chr5:57555200-57556400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:57555200-57556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:57555200-57556400	Enhancers	Placenta Amnion	Placenta Amnion

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