Variant report

Variant	rs73976158
Chromosome Location	chr2:172313894-172313895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172289425..172291434-chr2:172312851..172315597,3	MCF-7	breast:
2	chr2:172308091..172309888-chr2:172313699..172316132,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171164	0.87[EUR][1000 genomes]
rs10177689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10186304	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10192493	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10195990	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10198915	0.91[AMR][1000 genomes]
rs10202883	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10210332	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13386613	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13388963	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13395084	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13396824	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13402901	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414723	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13420838	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28608023	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28663293	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4566333	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58367130	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58808521	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59235233	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59318451	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59449823	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59599047	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60523677	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62181354	0.84[ASN][1000 genomes]
rs6712098	0.83[ASN][1000 genomes]
rs73976149	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976150	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976177	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580497	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9973419	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9973709	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
12	chr2:172298400-172314200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
15	chr2:172298400-172326200	Weak transcription	NHEK	skin
16	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
17	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:172298600-172341400	Weak transcription	NHLF	lung
19	chr2:172299400-172325400	Weak transcription	Gastric	stomach
20	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:172303600-172316200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:172303600-172317000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:172303800-172317400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:172304200-172314200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:172304200-172316600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:172304200-172316800	Strong transcription	Liver	Liver
27	chr2:172304800-172314400	Weak transcription	Spleen	Spleen
28	chr2:172304800-172315400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172304800-172315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:172304800-172315600	Weak transcription	Esophagus	oesophagus
31	chr2:172304800-172325200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:172304800-172325200	Weak transcription	Pancreas	Pancrea
33	chr2:172304800-172330000	Weak transcription	NH-A	brain
34	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:172305000-172326400	Weak transcription	Lung	lung
36	chr2:172305600-172314200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:172305800-172325200	Weak transcription	Aorta	Aorta
38	chr2:172305800-172325400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:172306600-172314000	Weak transcription	HMEC	breast
41	chr2:172306800-172314200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:172306800-172325200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:172306800-172325800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
45	chr2:172307400-172325400	Weak transcription	Thymus	Thymus
46	chr2:172307600-172314200	Weak transcription	Osteobl	bone
47	chr2:172307600-172314400	Weak transcription	HSMMtube	muscle
48	chr2:172307600-172314800	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:172307600-172325800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:172307600-172325800	Weak transcription	Colon Smooth Muscle	Colon

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