Variant report

Variant	rs73997637
Chromosome Location	chr2:234410208-234410209
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	chr2:234398690..234402106-chr2:234407622..234410683,3	MCF-7	breast:
2	chr2:234405752..234408399-chr2:234409710..234413994,3	K562	blood:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs28968505	0.84[AFR][1000 genomes]
rs4047262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57768657	0.84[AFR][1000 genomes]
rs58330864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376069	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995909	1.00[AMR][1000 genomes]
rs73995911	1.00[AMR][1000 genomes]
rs73995918	1.00[AMR][1000 genomes]
rs73995919	1.00[AMR][1000 genomes]
rs73995920	1.00[AMR][1000 genomes]
rs73995921	1.00[AMR][1000 genomes]
rs73995922	1.00[AMR][1000 genomes]
rs73995923	1.00[AMR][1000 genomes]
rs73995944	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995945	0.84[AFR][1000 genomes]
rs73995946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995947	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995948	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995949	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995950	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996124	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593807	1.00[AMR][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:103 , 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	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
4	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
6	chr2:234391600-234412000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:234392000-234411600	Weak transcription	Fetal Brain Female	brain
8	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
9	chr2:234395800-234411400	Strong transcription	Liver	Liver
10	chr2:234397800-234411400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
12	chr2:234398200-234411200	Weak transcription	Esophagus	oesophagus
13	chr2:234398200-234411200	Weak transcription	Thymus	Thymus
14	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
15	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:234400200-234410600	Weak transcription	Small Intestine	intestine
17	chr2:234400400-234430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:234401200-234410400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:234401200-234411200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:234401200-234430800	Weak transcription	NHLF	lung
21	chr2:234401800-234410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:234402200-234410600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:234402200-234411200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:234402200-234411200	Weak transcription	Pancreas	Pancrea
25	chr2:234402200-234411200	Weak transcription	Spleen	Spleen
26	chr2:234402200-234411200	Weak transcription	Dnd41	blood
27	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
28	chr2:234402600-234410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:234402600-234429800	Weak transcription	Right Ventricle	heart
30	chr2:234402600-234430600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:234402600-234436800	Weak transcription	Gastric	stomach
32	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:234403600-234411200	Strong transcription	Adipose Nuclei	Adipose
34	chr2:234404200-234411200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
36	chr2:234405000-234410400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:234405000-234431200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:234406000-234410600	Strong transcription	A549	lung
39	chr2:234406200-234411000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:234406800-234410400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:234406800-234410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:234406800-234411000	Weak transcription	Fetal Intestine Small	intestine
43	chr2:234406800-234411000	Weak transcription	Lung	lung
44	chr2:234407000-234410400	Weak transcription	Aorta	Aorta
45	chr2:234407000-234410400	Weak transcription	Left Ventricle	heart
46	chr2:234407000-234411000	Weak transcription	Fetal Stomach	stomach
47	chr2:234407000-234411200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:234407000-234411200	Weak transcription	HepG2	liver
49	chr2:234407400-234410400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:234407400-234410800	Weak transcription	Primary B cells from cord blood	blood

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