Variant report

Variant	rs73102257
Chromosome Location	chr2:233645075-233645076
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	chr2:233638966..233640656-chr2:233644513..233646533,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11883745	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11883794	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11884898	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11885029	0.80[EUR][1000 genomes]
rs11885497	0.97[EUR][1000 genomes]
rs11885646	1.00[EUR][1000 genomes]
rs11890879	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892639	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11894688	0.83[EUR][1000 genomes]
rs11897789	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11900295	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900327	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901015	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11904714	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271702	0.85[EUR][1000 genomes]
rs2289913	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289916	1.00[ASN][1000 genomes]
rs2293781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2344614	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2880899	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34487721	0.85[EUR][1000 genomes]
rs3738904	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3816336	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817310	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144794	0.97[EUR][1000 genomes]
rs55686138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55913849	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56140815	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56344253	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56953250	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57092158	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57211905	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57513852	0.85[EUR][1000 genomes]
rs57657135	0.95[EUR][1000 genomes]
rs57667610	0.81[EUR][1000 genomes]
rs57986228	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58268778	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58466616	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58520085	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58835825	0.85[EUR][1000 genomes]
rs59488869	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59502980	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59514271	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59667905	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60103392	0.81[EUR][1000 genomes]
rs60532570	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61518838	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6719766	0.80[EUR][1000 genomes]
rs73092767	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73092790	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73102244	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73102286	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73106355	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73106363	0.83[EUR][1000 genomes]
rs73107693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73108328	0.85[EUR][1000 genomes]
rs73108346	0.83[EUR][1000 genomes]
rs73995715	0.80[EUR][1000 genomes]
rs73999707	0.83[EUR][1000 genomes]
rs7560000	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7564410	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578385	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598518	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601559	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606011	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS 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
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
5	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
6	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
10	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
12	chr2:233636200-233646200	Weak transcription	HSMMtube	muscle
13	chr2:233636200-233646400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:233636200-233646400	Weak transcription	K562	blood
15	chr2:233636200-233649600	Weak transcription	Aorta	Aorta
16	chr2:233636200-233649600	Weak transcription	Lung	lung
17	chr2:233636200-233650000	Weak transcription	Fetal Brain Male	brain
18	chr2:233636200-233651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:233636200-233655200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:233636200-233655200	Weak transcription	NHLF	lung
21	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
22	chr2:233636400-233649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:233636400-233651800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:233636400-233651800	Weak transcription	NH-A	brain
25	chr2:233636400-233655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:233636800-233650000	Weak transcription	Osteobl	bone
27	chr2:233637000-233649400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:233637000-233651000	Weak transcription	Left Ventricle	heart
29	chr2:233637000-233652600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:233637400-233646200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:233637400-233649600	Weak transcription	Thymus	Thymus
32	chr2:233637400-233649800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:233637600-233648600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:233637600-233648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:233637600-233649600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:233637600-233652400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:233637800-233646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:233637800-233651800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:233637800-233652400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:233637800-233652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:233638000-233651600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:233638000-233653800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:233638400-233646400	Weak transcription	Hela-S3	cervix
44	chr2:233638400-233651800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:233638400-233651800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:233639000-233645400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:233639200-233645600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:233639200-233646200	Weak transcription	A549	lung
49	chr2:233639200-233650000	Weak transcription	Fetal Brain Female	brain
50	chr2:233639400-233652400	Weak transcription	HUVEC	blood vessel

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