Variant report

Variant	rs16823191
Chromosome Location	chr2:171930818-171930819
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	chr2:171929849..171932230-chr2:172012794..172015228,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1035839	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs10490606	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389859	1.00[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs16859087	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs16859121	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859137	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859167	0.81[AMR][1000 genomes]
rs16859176	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16859177	1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap]
rs1863679	0.92[LWK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap]
rs2356600	0.82[YRI][hapmap];0.84[AMR][1000 genomes]
rs2356609	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2676143	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs2723248	0.86[MEX][hapmap];0.87[TSI][hapmap]
rs2723253	0.86[TSI][hapmap]
rs2883940	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs4668356	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs55644524	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55885449	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs55939429	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55995602	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55997598	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56004444	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56155163	0.85[AMR][1000 genomes]
rs56155601	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56191582	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56308745	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56382502	0.84[AMR][1000 genomes]
rs56934523	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs57173242	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57733560	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58028937	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58307585	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58685348	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59841744	0.85[AMR][1000 genomes]
rs60396936	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60730419	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6736045	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6746133	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs73013435	0.81[AMR][1000 genomes]
rs73013436	0.81[AMR][1000 genomes]
rs73013439	0.80[AFR][1000 genomes]
rs73017249	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73027271	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029214	0.84[AMR][1000 genomes]
rs73976285	0.81[AMR][1000 genomes]
rs7604392	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9752051	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
2	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
4	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
5	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
6	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
7	chr2:171900000-171940000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:171900200-171936400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:171900200-171937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
11	chr2:171903000-171940000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:171905800-171939200	Weak transcription	HSMMtube	muscle
13	chr2:171907800-171942800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:171908200-171932200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:171911600-171943200	Weak transcription	NH-A	brain
16	chr2:171912400-171937400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:171916400-171932200	Weak transcription	K562	blood
18	chr2:171916600-171940000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:171916600-171944600	Weak transcription	Lung	lung
20	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:171916600-171970800	Weak transcription	Ovary	ovary
22	chr2:171916800-171935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:171916800-171942200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:171916800-171943200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:171917000-171932000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:171917000-171934600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:171917000-171937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:171917000-171940400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:171917000-171942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:171917000-171942800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:171917000-171942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:171917000-171942800	Weak transcription	Gastric	stomach
33	chr2:171917000-171942800	Weak transcription	Left Ventricle	heart
34	chr2:171917000-171943000	Weak transcription	Osteobl	bone
35	chr2:171917000-171943200	Weak transcription	Fetal Lung	lung
36	chr2:171917000-171946200	Weak transcription	Psoas Muscle	Psoas
37	chr2:171917000-171948000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:171917000-171953200	Weak transcription	HSMM	muscle
39	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:171917200-171937600	Weak transcription	HUVEC	blood vessel
42	chr2:171917400-171943200	Weak transcription	NHDF-Ad	bronchial
43	chr2:171917600-171932400	Weak transcription	Liver	Liver
44	chr2:171917600-171935200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:171917600-171942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:171917800-171938200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:171918000-171932600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:171918200-171932400	Weak transcription	Placenta	Placenta
49	chr2:171918200-171934000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:171918400-171940600	Weak transcription	H1 Cell Line	embryonic stem cell

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