Variant report

Variant	rs73995920
Chromosome Location	chr2:234274550-234274551
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	chr2:234265828..234267966-chr2:234273023..234275764,2	K562	blood:
2	chr2:234268370..234271611-chr2:234272538..234274981,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs4588184	1.00[AMR][1000 genomes]
rs56273947	0.82[AFR][1000 genomes]
rs56274731	1.00[AMR][1000 genomes]
rs56306918	1.00[AMR][1000 genomes]
rs56317380	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57285092	1.00[AMR][1000 genomes]
rs58330864	1.00[AMR][1000 genomes]
rs58489211	1.00[AMR][1000 genomes]
rs58583213	1.00[AMR][1000 genomes]
rs58864422	1.00[AMR][1000 genomes]
rs59543173	1.00[AMR][1000 genomes]
rs61376069	1.00[AMR][1000 genomes]
rs6726032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734355	1.00[AMR][1000 genomes]
rs73995909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995911	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995921	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995944	1.00[AMR][1000 genomes]
rs73995946	1.00[AMR][1000 genomes]
rs73995947	1.00[AMR][1000 genomes]
rs73995948	1.00[AMR][1000 genomes]
rs73995949	1.00[AMR][1000 genomes]
rs73995950	1.00[AMR][1000 genomes]
rs73995970	1.00[AMR][1000 genomes]
rs73995972	1.00[AMR][1000 genomes]
rs73995973	1.00[AMR][1000 genomes]
rs73995974	1.00[AMR][1000 genomes]
rs73995980	1.00[AMR][1000 genomes]
rs73996001	1.00[AMR][1000 genomes]
rs73996105	1.00[AMR][1000 genomes]
rs73996107	1.00[AMR][1000 genomes]
rs73996118	1.00[AMR][1000 genomes]
rs73996119	1.00[AMR][1000 genomes]
rs73996120	1.00[AMR][1000 genomes]
rs73996121	1.00[AMR][1000 genomes]
rs73996124	1.00[AMR][1000 genomes]
rs73997606	1.00[AMR][1000 genomes]
rs73997607	1.00[AMR][1000 genomes]
rs73997608	1.00[AMR][1000 genomes]
rs73997611	1.00[AMR][1000 genomes]
rs73997612	1.00[AMR][1000 genomes]
rs73997630	1.00[AMR][1000 genomes]
rs73997631	1.00[AMR][1000 genomes]
rs73997633	1.00[AMR][1000 genomes]
rs73997637	1.00[AMR][1000 genomes]
rs73997638	1.00[AMR][1000 genomes]
rs745154	1.00[AMR][1000 genomes]
rs7580191	1.00[AMR][1000 genomes]
rs7584192	1.00[AMR][1000 genomes]
rs7593807	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264400-234274800	Weak transcription	NHDF-Ad	bronchial
2	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
6	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
8	chr2:234265000-234295000	Weak transcription	Osteobl	bone
9	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234265200-234295000	Weak transcription	NH-A	brain
11	chr2:234265400-234281600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:234265800-234278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:234265800-234278200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:234265800-234283800	Weak transcription	Colonic Mucosa	Colon
15	chr2:234265800-234289400	Weak transcription	Hela-S3	cervix
16	chr2:234265800-234293000	Weak transcription	HMEC	breast
17	chr2:234266000-234274800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:234266000-234274800	Weak transcription	Pancreas	Pancrea
19	chr2:234266000-234292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:234266000-234292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:234266000-234293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:234266400-234294000	Weak transcription	Fetal Brain Male	brain
23	chr2:234266600-234274800	Weak transcription	Lung	lung
24	chr2:234266600-234275000	Weak transcription	Gastric	stomach
25	chr2:234266600-234277600	Weak transcription	Spleen	Spleen
26	chr2:234266600-234281600	Weak transcription	Fetal Thymus	thymus
27	chr2:234267600-234281600	Weak transcription	Dnd41	blood
28	chr2:234267800-234278400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:234267800-234281600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:234268000-234277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:234268400-234293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:234268800-234283400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:234269200-234293400	Weak transcription	Right Atrium	heart
34	chr2:234270000-234274800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:234270000-234277400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:234270000-234287600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:234270200-234275000	Weak transcription	Brain Angular Gyrus	brain
39	chr2:234270200-234281600	Weak transcription	Adipose Nuclei	Adipose
40	chr2:234270200-234284000	Weak transcription	Psoas Muscle	Psoas
41	chr2:234270200-234288800	Weak transcription	Right Ventricle	heart
42	chr2:234270400-234276200	Weak transcription	K562	blood
43	chr2:234270400-234278400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:234270400-234284200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:234270600-234275200	Weak transcription	Left Ventricle	heart
46	chr2:234271200-234278000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:234272200-234276400	Strong transcription	A549	lung
48	chr2:234272600-234278200	Weak transcription	Ovary	ovary
49	chr2:234272600-234278200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:234272600-234278400	Weak transcription	HSMM	muscle

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