Variant report

Variant	rs68069205
Chromosome Location	chr3:160163000-160163001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160162459..160164348-chr3:160281836..160284540,2	K562	blood:
2	chr3:160115920..160119334-chr3:160160724..160164257,4	MCF-7	breast:
3	chr3:160116116..160127665-chr3:160158037..160169627,42	K562	blood:
4	chr3:160162127..160164751-chr3:160280625..160284540,4	K562	blood:
5	chr3:160152431..160159028-chr3:160159168..160164097,7	MCF-7	breast:
6	chr3:160116116..160124648-chr3:160162504..160168767,20	K562	blood:
7	chr3:160124957..160126524-chr3:160162732..160165262,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198987	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000068885	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000207779	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10513550	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920289	0.91[EUR][1000 genomes]
rs12233589	0.91[EUR][1000 genomes]
rs2015065	0.89[AFR][1000 genomes]
rs2275153	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305401	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305406	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33999879	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736627	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3773371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806629	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41272959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532176	0.81[ASN][1000 genomes]
rs55815116	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119270	0.91[EUR][1000 genomes]
rs56124988	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56150006	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343019	0.83[ASN][1000 genomes]
rs56396435	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56401539	0.98[EUR][1000 genomes]
rs57030267	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57050097	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57277659	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57285344	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57328745	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57555307	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58627305	0.91[EUR][1000 genomes]
rs58654032	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58776572	0.98[EUR][1000 genomes]
rs58915028	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59695030	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59700052	0.80[AFR][1000 genomes]
rs59799252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60066272	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60153357	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60222090	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60517889	0.86[EUR][1000 genomes]
rs60607858	0.98[EUR][1000 genomes]
rs60914777	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61066536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272169	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272176	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272179	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272180	0.91[EUR][1000 genomes]
rs62272181	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272185	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272187	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272188	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272190	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272191	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272193	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272196	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272197	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272198	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272207	0.91[EUR][1000 genomes]
rs62272231	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272236	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272237	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272249	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272251	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272254	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272255	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272256	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272257	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272258	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272259	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272780	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272781	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272783	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272785	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272787	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272788	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272790	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272793	0.91[EUR][1000 genomes]
rs62272799	0.89[EUR][1000 genomes]
rs62272804	0.83[ASN][1000 genomes]
rs62272805	0.83[ASN][1000 genomes]
rs62272806	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272831	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272833	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272836	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272838	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66769612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66850724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154582	0.83[ASN][1000 genomes]
rs73154583	0.83[ASN][1000 genomes]
rs73154587	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155914	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7611148	0.89[AFR][1000 genomes]
rs7611573	0.89[AFR][1000 genomes]
rs7614701	0.91[EUR][1000 genomes]
rs7618017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7645798	0.91[EUR][1000 genomes]
rs7648832	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9637414	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160120200-160164400	Weak transcription	Fetal Brain Male	brain
2	chr3:160122000-160164400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:160122000-160164600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:160130000-160166200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:160133800-160164600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:160140800-160166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:160142400-160164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:160143600-160166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:160145600-160166800	Weak transcription	Right Atrium	heart
10	chr3:160146000-160164400	Weak transcription	Gastric	stomach
11	chr3:160146000-160165400	Weak transcription	Aorta	Aorta
12	chr3:160146000-160167000	Weak transcription	Pancreas	Pancrea
13	chr3:160146400-160166200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:160147000-160164400	Weak transcription	Esophagus	oesophagus
15	chr3:160147000-160166200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:160147800-160164400	Weak transcription	Lung	lung
17	chr3:160150600-160166000	Weak transcription	Fetal Brain Female	brain
18	chr3:160151000-160166600	Weak transcription	Small Intestine	intestine
19	chr3:160151000-160166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:160152200-160163600	Weak transcription	Brain Substantia Nigra	brain
21	chr3:160152200-160165200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:160152400-160164000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:160152400-160166000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:160152600-160165200	Weak transcription	Hela-S3	cervix
25	chr3:160152600-160166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:160153200-160166200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:160153400-160166600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:160154000-160163000	Weak transcription	HMEC	breast
29	chr3:160154000-160164600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:160154200-160164400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:160154200-160165200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:160154200-160165400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:160154400-160164400	Weak transcription	Brain Germinal Matrix	brain
34	chr3:160154600-160166400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:160155000-160165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:160155000-160166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:160155000-160167000	Weak transcription	Placenta	Placenta
38	chr3:160155200-160163000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:160155200-160163000	Weak transcription	Fetal Stomach	stomach
40	chr3:160155400-160163600	Weak transcription	Fetal Heart	heart
41	chr3:160156200-160163800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:160156400-160163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:160156400-160165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:160156600-160165200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:160156800-160165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:160156800-160166200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:160157000-160164400	Weak transcription	Fetal Lung	lung
48	chr3:160157000-160166600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:160157000-160166600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:160157400-160165200	Weak transcription	NH-A	brain

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