Variant report

Variant	rs73997636
Chromosome Location	chr2:234406045-234406046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234404504..234406876-chr2:234739242..234740869,2	MCF-7	breast:
2	chr2:234400113..234401794-chr2:234403565..234406076,3	MCF-7	breast:
3	chr2:234404472..234406274-chr2:234599019..234601933,2	MCF-7	breast:
4	chr2:234405752..234408399-chr2:234409710..234413994,3	K562	blood:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56836072	0.91[AFR][1000 genomes]
rs58471039	0.82[AFR][1000 genomes]
rs58963596	0.86[AFR][1000 genomes]
rs60732790	0.95[AFR][1000 genomes]
rs6709877	0.95[AFR][1000 genomes]
rs6732036	0.91[AFR][1000 genomes]
rs6738048	0.82[AFR][1000 genomes]
rs73995925	0.91[AFR][1000 genomes]
rs73995926	0.91[AFR][1000 genomes]
rs73995943	0.91[AFR][1000 genomes]
rs73995952	0.86[AFR][1000 genomes]
rs73995953	0.86[AFR][1000 genomes]
rs73995954	0.86[AFR][1000 genomes]
rs73996108	0.82[AFR][1000 genomes]
rs73996122	0.82[AFR][1000 genomes]
rs73997605	0.95[AFR][1000 genomes]
rs73997609	0.91[AFR][1000 genomes]
rs73997632	1.00[AFR][1000 genomes]
rs7562104	1.00[AFR][1000 genomes]
rs7594222	0.91[AFR][1000 genomes]
rs7599218	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
5	chr2:234384600-234408400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:234386800-234407800	Strong transcription	Fetal Intestine Large	intestine
7	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
9	chr2:234391600-234412000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:234392000-234411600	Weak transcription	Fetal Brain Female	brain
11	chr2:234392800-234406400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
13	chr2:234395800-234408000	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:234395800-234411400	Strong transcription	Liver	Liver
15	chr2:234396000-234407000	Strong transcription	HepG2	liver
16	chr2:234396400-234407600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr2:234396800-234409600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:234397800-234411400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
20	chr2:234398200-234411200	Weak transcription	Esophagus	oesophagus
21	chr2:234398200-234411200	Weak transcription	Thymus	Thymus
22	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
23	chr2:234398600-234406600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:234398600-234408800	Weak transcription	NH-A	brain
25	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:234398800-234407600	Strong transcription	HSMM	muscle
27	chr2:234398800-234408800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234399000-234406200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:234399000-234408400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:234399000-234408400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:234399000-234409000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:234399000-234409200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:234399600-234410000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:234400200-234406200	Weak transcription	HSMMtube	muscle
35	chr2:234400200-234410600	Weak transcription	Small Intestine	intestine
36	chr2:234400400-234430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:234400800-234406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:234401200-234407200	Weak transcription	Fetal Lung	lung
39	chr2:234401200-234410400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:234401200-234411200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:234401200-234430800	Weak transcription	NHLF	lung
42	chr2:234401800-234410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:234402200-234409800	Weak transcription	Brain Substantia Nigra	brain
44	chr2:234402200-234409800	Weak transcription	NHDF-Ad	bronchial
45	chr2:234402200-234410600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:234402200-234411200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:234402200-234411200	Weak transcription	Pancreas	Pancrea
48	chr2:234402200-234411200	Weak transcription	Spleen	Spleen
49	chr2:234402200-234411200	Weak transcription	Dnd41	blood
50	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas

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