Variant report

Variant	rs56140217
Chromosome Location	chr6:34941018-34941019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34940687..34943018-chr6:34944838..34946831,2	K562	blood:
2	chr6:34927113..34929243-chr6:34940078..34941859,2	K562	blood:
3	chr6:34858926..34861792-chr6:34939953..34942289,2	MCF-7	breast:
4	chr6:34940870..34943018-chr6:34943935..34946831,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10807143	0.84[ASN][1000 genomes]
rs10947533	0.88[ASN][1000 genomes]
rs10947534	0.81[ASN][1000 genomes]
rs10947535	0.82[ASN][1000 genomes]
rs13204222	0.82[ASN][1000 genomes]
rs13215944	0.84[ASN][1000 genomes]
rs13220916	0.81[ASN][1000 genomes]
rs16895354	0.84[ASN][1000 genomes]
rs1737724	0.92[ASN][1000 genomes]
rs1883639	0.84[ASN][1000 genomes]
rs2030611	0.85[ASN][1000 genomes]
rs2395601	0.82[ASN][1000 genomes]
rs34006431	0.84[ASN][1000 genomes]
rs35057781	0.85[ASN][1000 genomes]
rs35499928	0.84[ASN][1000 genomes]
rs35760768	0.84[ASN][1000 genomes]
rs35786848	0.84[ASN][1000 genomes]
rs3734258	0.83[ASN][1000 genomes]
rs3734259	0.80[ASN][1000 genomes]
rs3756859	0.84[ASN][1000 genomes]
rs3800443	0.89[ASN][1000 genomes]
rs3800448	0.85[ASN][1000 genomes]
rs3800450	0.85[ASN][1000 genomes]
rs3800452	0.85[ASN][1000 genomes]
rs3822923	0.80[ASN][1000 genomes]
rs4646919	0.82[ASN][1000 genomes]
rs4646920	0.83[ASN][1000 genomes]
rs4646922	0.82[ASN][1000 genomes]
rs4646941	0.81[ASN][1000 genomes]
rs57955553	0.84[ASN][1000 genomes]
rs58595551	0.80[ASN][1000 genomes]
rs6457799	0.81[ASN][1000 genomes]
rs6907427	0.84[ASN][1000 genomes]
rs6912229	0.88[ASN][1000 genomes]
rs6913108	0.88[ASN][1000 genomes]
rs6918498	0.85[ASN][1000 genomes]
rs6927009	0.84[ASN][1000 genomes]
rs6941065	0.84[ASN][1000 genomes]
rs73745049	0.85[ASN][1000 genomes]
rs73745050	0.85[ASN][1000 genomes]
rs7740148	0.86[ASN][1000 genomes]
rs7751820	0.82[ASN][1000 genomes]
rs7752468	0.84[ASN][1000 genomes]
rs7755801	0.84[ASN][1000 genomes]
rs7756122	0.84[ASN][1000 genomes]
rs847842	0.89[ASN][1000 genomes]
rs847844	0.94[ASN][1000 genomes]
rs847845	0.97[ASN][1000 genomes]
rs847861	0.97[ASN][1000 genomes]
rs847862	0.87[ASN][1000 genomes]
rs861878	0.87[ASN][1000 genomes]
rs9357187	0.83[ASN][1000 genomes]
rs9368835	0.83[ASN][1000 genomes]
rs9368837	0.83[ASN][1000 genomes]
rs9380465	0.84[ASN][1000 genomes]
rs9380466	0.84[ASN][1000 genomes]
rs9380467	0.83[ASN][1000 genomes]
rs9380468	0.83[ASN][1000 genomes]
rs9380470	0.85[ASN][1000 genomes]
rs9380476	0.96[ASN][1000 genomes]
rs9394254	0.84[ASN][1000 genomes]
rs9394255	0.84[ASN][1000 genomes]
rs9784889	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3404876	chr6:34940824-34943172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
3	chr6:34921200-34949400	Weak transcription	Esophagus	oesophagus
4	chr6:34921600-34949400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
6	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
7	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
9	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:34928400-34949400	Weak transcription	Pancreas	Pancrea
11	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:34931600-34954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:34932400-34949200	Weak transcription	Right Atrium	heart
15	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:34933000-34949400	Weak transcription	HSMM	muscle
18	chr6:34933000-34952600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:34935200-34947000	Weak transcription	Fetal Heart	heart
20	chr6:34935200-34950400	Weak transcription	Right Ventricle	heart
21	chr6:34935200-34954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:34937200-34941200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:34937400-34941200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:34937400-34941200	Strong transcription	Primary B cells from cord blood	blood
26	chr6:34937400-34941200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:34937400-34941200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:34937600-34941200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:34937600-34941200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:34937600-34941200	Strong transcription	Adipose Nuclei	Adipose
31	chr6:34937600-34941200	Strong transcription	Liver	Liver
32	chr6:34937600-34941200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr6:34937600-34941400	Strong transcription	Placenta	Placenta
34	chr6:34937600-34941600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:34937800-34941200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:34937800-34941200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:34937800-34941200	Strong transcription	Lung	lung
38	chr6:34937800-34941400	Strong transcription	Colon Smooth Muscle	Colon
39	chr6:34938000-34949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:34938200-34949000	Weak transcription	K562	blood
41	chr6:34938400-34949200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:34938400-34949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:34938400-34949400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:34938400-34949400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:34938400-34949400	Weak transcription	Dnd41	blood
46	chr6:34938400-34949600	Weak transcription	Brain Angular Gyrus	brain
47	chr6:34938400-34949600	Weak transcription	Fetal Lung	lung
48	chr6:34938400-34954800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:34938600-34949000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:34938600-34949600	Weak transcription	Fetal Brain Female	brain

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