Variant report

Variant	rs16853185
Chromosome Location	chr2:168045410-168045411
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10451542	0.90[JPT][hapmap]
rs10497310	0.86[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12105909	0.81[EUR][1000 genomes]
rs16853057	0.84[JPT][hapmap]
rs16853061	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs16853128	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs16853166	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16853217	0.85[JPT][hapmap]
rs61661888	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6432984	0.86[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73025703	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73029709	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73029712	0.81[EUR][1000 genomes]
rs73970886	0.81[EUR][1000 genomes]
rs7597463	0.82[JPT][hapmap]
rs988445	0.90[JPT][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168038800-168046200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:168039000-168048000	Weak transcription	NHEK	skin
3	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:168039200-168046200	Weak transcription	HMEC	breast
5	chr2:168039200-168048000	Weak transcription	NHLF	lung
6	chr2:168042400-168048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:168042800-168045600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:168042800-168047000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:168043000-168045800	Enhancers	Fetal Heart	heart
10	chr2:168043200-168046000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr2:168043400-168046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:168043400-168051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:168043600-168046200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:168043600-168047400	Active TSS	Psoas Muscle	Psoas
15	chr2:168043800-168046400	Active TSS	Right Atrium	heart
16	chr2:168043800-168047000	Active TSS	Fetal Muscle Trunk	muscle
17	chr2:168043800-168049600	Active TSS	Right Ventricle	heart
18	chr2:168043800-168050200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:168044000-168046200	Weak transcription	Pancreas	Pancrea
20	chr2:168044000-168046200	Weak transcription	HSMM	muscle
21	chr2:168044000-168046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:168044000-168046400	Active TSS	Fetal Muscle Leg	muscle
23	chr2:168044000-168046800	Weak transcription	Ovary	ovary
24	chr2:168044000-168047600	Active TSS	Left Ventricle	heart
25	chr2:168044400-168049200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:168045000-168046200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:168045000-168046200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:168045000-168050200	Enhancers	Osteobl	bone
29	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:168045200-168045600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:168045200-168045600	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:168045200-168046400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:168045200-168049200	Weak transcription	HSMMtube	muscle
34	chr2:168045400-168045600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:168045400-168046200	Weak transcription	Adipose Nuclei	Adipose
36	chr2:168045400-168046200	Weak transcription	Aorta	Aorta
37	chr2:168045400-168052600	Weak transcription	Fetal Lung	lung
38	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain

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