Variant report

Variant	rs11917197
Chromosome Location	chr3:20181393-20181394
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20029851..20032501-chr3:20180308..20182516,2	K562	blood:
2	chr3:20026744..20028391-chr3:20179736..20182279,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10865760	0.81[CHD][hapmap]
rs11128940	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11918156	0.82[ASN][1000 genomes]
rs11922657	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11923928	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs12631457	1.00[CEU][hapmap]
rs12636856	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs12636894	0.96[ASN][1000 genomes]
rs13083709	0.92[JPT][hapmap]
rs17006728	0.80[ASN][1000 genomes]
rs3792279	0.85[ASN][1000 genomes]
rs3804564	0.95[ASN][1000 genomes]
rs55783650	0.87[ASN][1000 genomes]
rs56233992	0.80[ASN][1000 genomes]
rs57566579	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59200822	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59256081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60452696	0.80[ASN][1000 genomes]
rs60916747	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61440199	0.81[AMR][1000 genomes]
rs6763504	0.83[JPT][hapmap]
rs6771737	0.83[JPT][hapmap]
rs73175213	0.80[ASN][1000 genomes]
rs73175216	0.80[ASN][1000 genomes]
rs73175217	0.80[ASN][1000 genomes]
rs73175223	0.80[ASN][1000 genomes]
rs73818808	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73818810	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73818811	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73818812	0.83[ASN][1000 genomes]
rs73818815	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73818816	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73818824	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73822403	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1830036	chr3:20121828-20278275	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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	15 gene(s)	inside rSNPs	diseases
13	esv1830599	chr3:20121828-20375643	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1828816	chr3:20136508-20389045	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv3394910	chr3:20150394-20203576	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv3334928	chr3:20150414-20203546	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	esv1832674	chr3:20152772-20605302	Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	esv1831853	chr3:20157077-20615273	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	esv1833208	chr3:20157077-20638228	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
20	esv2422249	chr3:20163608-20626956	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
21	esv1826144	chr3:20164282-20638228	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
22	nsv1013532	chr3:20172889-20305612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv536513	chr3:20172889-20305612	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
4	chr3:20147600-20194200	Weak transcription	Dnd41	blood
5	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
6	chr3:20152000-20182800	Weak transcription	Colonic Mucosa	Colon
7	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:20160400-20182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:20162200-20183400	Weak transcription	Gastric	stomach
10	chr3:20162200-20184000	Weak transcription	Right Ventricle	heart
11	chr3:20162800-20183000	Weak transcription	Fetal Heart	heart
12	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
14	chr3:20164800-20181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:20164800-20181600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:20167800-20181800	Weak transcription	Lung	lung
18	chr3:20167800-20196600	Weak transcription	K562	blood
19	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:20168000-20183600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:20168600-20182800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
23	chr3:20169400-20184400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:20169600-20181800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:20169600-20181800	Weak transcription	Ovary	ovary
26	chr3:20169600-20182000	Weak transcription	Fetal Intestine Small	intestine
27	chr3:20169600-20182000	Weak transcription	Spleen	Spleen
28	chr3:20169600-20182400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:20169600-20182600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:20169600-20183400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:20169600-20183400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:20169600-20189600	Weak transcription	Fetal Intestine Large	intestine
33	chr3:20169600-20189600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
35	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
36	chr3:20169800-20182400	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:20169800-20183600	Weak transcription	Brain Angular Gyrus	brain
38	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:20170000-20182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:20170000-20183000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:20170200-20182200	Weak transcription	Brain Anterior Caudate	brain
43	chr3:20170400-20184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:20171600-20181600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:20172000-20181800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:20172000-20183000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:20172200-20182400	Weak transcription	Brain Substantia Nigra	brain
48	chr3:20174800-20190000	Weak transcription	Placenta	Placenta
49	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:20177600-20181400	Weak transcription	Primary T cells from cord blood	blood

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