Variant report

Variant	rs73997639
Chromosome Location	chr2:234411705-234411706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234405752..234408399-chr2:234409710..234413994,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28948380	1.00[AMR][1000 genomes]
rs28966994	1.00[AMR][1000 genomes]
rs28968501	1.00[AMR][1000 genomes]
rs28968511	1.00[AMR][1000 genomes]
rs28968512	1.00[AMR][1000 genomes]
rs28968514	1.00[AMR][1000 genomes]
rs59123908	1.00[AMR][1000 genomes]
rs61158161	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6431482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996106	1.00[AMR][1000 genomes]
rs73996128	1.00[AMR][1000 genomes]
rs73996129	1.00[AMR][1000 genomes]
rs73997634	1.00[AMR][1000 genomes]
rs73997635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997640	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
2	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
4	chr2:234391600-234412000	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
6	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
7	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
8	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:234400400-234430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:234401200-234430800	Weak transcription	NHLF	lung
11	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
12	chr2:234402600-234429800	Weak transcription	Right Ventricle	heart
13	chr2:234402600-234430600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:234402600-234436800	Weak transcription	Gastric	stomach
15	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
17	chr2:234405000-234431200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:234407400-234412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:234407400-234412000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:234407600-234419600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:234407800-234431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:234407800-234436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:234408400-234415600	Weak transcription	Placenta	Placenta
24	chr2:234409800-234415200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:234410000-234416000	Strong transcription	Fetal Kidney	kidney
26	chr2:234410400-234411800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:234410400-234412000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:234410400-234413200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr2:234410400-234414200	ZNF genes & repeats	GM12878-XiMat	blood
30	chr2:234410400-234428000	Weak transcription	NHDF-Ad	bronchial
31	chr2:234410600-234413000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr2:234410600-234413200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr2:234410600-234413200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:234410600-234413800	ZNF genes & repeats	A549	lung
35	chr2:234410600-234427200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:234410600-234428200	Weak transcription	Osteobl	bone
37	chr2:234410800-234411800	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:234410800-234412800	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr2:234410800-234412800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:234410800-234413600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:234410800-234429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:234411000-234412200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr2:234411000-234413000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr2:234411200-234411800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:234411200-234411800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr2:234411200-234412200	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr2:234411200-234412400	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr2:234411200-234412600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:234411200-234412600	ZNF genes & repeats	HSMMtube	muscle
50	chr2:234411200-234412800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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