Variant report

Variant	rs73970886
Chromosome Location	chr2:168052964-168052965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10497310	0.81[EUR][1000 genomes]
rs12105909	1.00[EUR][1000 genomes]
rs16853061	0.81[EUR][1000 genomes]
rs16853128	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16853166	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16853185	0.81[EUR][1000 genomes]
rs61661888	0.83[EUR][1000 genomes]
rs73025703	0.83[EUR][1000 genomes]
rs73029712	1.00[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain
4	chr2:168045600-168053000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:168047000-168053000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:168049600-168078800	Weak transcription	Right Ventricle	heart
7	chr2:168050000-168053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:168050000-168053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:168050000-168053000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:168050000-168053000	Weak transcription	NH-A	brain
11	chr2:168050200-168053000	Weak transcription	HMEC	breast
12	chr2:168050200-168053000	Weak transcription	HSMM	muscle
13	chr2:168050200-168053000	Weak transcription	HSMMtube	muscle
14	chr2:168050200-168053000	Weak transcription	Osteobl	bone
15	chr2:168050800-168053600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:168051000-168053000	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:168051600-168056400	Enhancers	Fetal Heart	heart
18	chr2:168052000-168053600	Enhancers	Psoas Muscle	Psoas
19	chr2:168052000-168054000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:168052000-168054400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:168052000-168056400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:168052200-168053000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:168052200-168053200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:168052200-168053400	Enhancers	Left Ventricle	heart
25	chr2:168052400-168053200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr2:168052600-168053800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:168052600-168054400	Enhancers	Fetal Lung	lung
28	chr2:168052800-168053400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:168052800-168053400	Enhancers	Right Atrium	heart
30	chr2:168052800-168053600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:168052800-168053600	Enhancers	Brain Germinal Matrix	brain
32	chr2:168052800-168053600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:168052800-168053600	Enhancers	Fetal Intestine Large	intestine
34	chr2:168052800-168053800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:168052800-168053800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:168052800-168053800	Enhancers	Fetal Muscle Leg	muscle
37	chr2:168052800-168053800	Enhancers	NHDF-Ad	bronchial
38	chr2:168052800-168053800	Enhancers	NHLF	lung
39	chr2:168052800-168054000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:168052800-168054400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:168052800-168054400	Enhancers	Adipose Nuclei	Adipose

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