Variant report

Variant	rs58330864
Chromosome Location	chr2:234428499-234428500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234390637..234392583-chr2:234428412..234431131,2	K562	blood:
2	chr2:234427830..234430556-chr2:234432658..234434304,2	MCF-7	breast:
3	chr2:234427524..234429741-chr2:234473962..234475530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 65 )
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]
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]
rs73997637	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:3 , 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	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	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
3	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
4	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
5	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
6	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:234400400-234430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:234401200-234430800	Weak transcription	NHLF	lung
9	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
10	chr2:234402600-234429800	Weak transcription	Right Ventricle	heart
11	chr2:234402600-234430600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:234402600-234436800	Weak transcription	Gastric	stomach
13	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
15	chr2:234405000-234431200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:234407800-234431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:234407800-234436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:234410800-234429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:234411400-234430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:234411400-234430000	Weak transcription	Aorta	Aorta
21	chr2:234411400-234432400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:234411600-234429800	Weak transcription	Pancreas	Pancrea
23	chr2:234411600-234431800	Weak transcription	Lung	lung
24	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
25	chr2:234412400-234437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:234412600-234437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:234413000-234431000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
29	chr2:234413200-234431400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:234413200-234440600	Weak transcription	Dnd41	blood
31	chr2:234413400-234429600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:234413400-234431200	Weak transcription	NHEK	skin
33	chr2:234413800-234429400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:234415400-234440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:234416200-234441200	Weak transcription	Fetal Kidney	kidney
37	chr2:234416200-234441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:234416600-234429600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:234416600-234430000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:234417000-234429600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:234418600-234436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:234418800-234429800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:234420000-234431200	Weak transcription	Ovary	ovary
44	chr2:234420200-234430000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:234420200-234430600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:234420400-234428800	Weak transcription	HSMM	muscle
47	chr2:234420600-234429800	Weak transcription	Fetal Brain Female	brain
48	chr2:234422800-234430000	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:234423000-234429200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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