Variant report

Variant	rs763354
Chromosome Location	chr6:72115621-72115622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:72113042-72115941	HEK293	kidney:	n/a	n/a
2	POLR2A	chr6:72115303-72116149	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:72115520-72116239	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
MIR30A	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12192535	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12214632	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1405848	0.90[ASN][1000 genomes]
rs16880826	0.81[AMR][1000 genomes]
rs1852578	0.90[ASN][1000 genomes]
rs1918478	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222722	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs4291065	0.86[ASN][1000 genomes]
rs6455418	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs6902769	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6903167	0.93[CHD][hapmap]
rs7349905	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283841	0.87[CHB][hapmap];0.98[CHD][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs9342836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346470	0.89[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9351809	0.81[AMR][1000 genomes]
rs9351810	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9351811	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9355001	0.93[CHD][hapmap]
rs9364165	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364166	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364167	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364168	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72098400-72117200	Weak transcription	Pancreas	Pancrea
2	chr6:72104000-72122000	Weak transcription	Fetal Stomach	stomach
3	chr6:72105600-72117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:72106000-72119600	Weak transcription	Lung	lung
5	chr6:72106000-72124800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:72106400-72126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:72106400-72128600	Weak transcription	Fetal Brain Male	brain
8	chr6:72106600-72117200	Weak transcription	Gastric	stomach
9	chr6:72106600-72122000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:72106800-72117000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:72106800-72119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:72106800-72122000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
14	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:72107800-72118400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:72111800-72116000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:72112000-72115800	Enhancers	NHDF-Ad	bronchial
19	chr6:72112000-72117200	Weak transcription	Left Ventricle	heart
20	chr6:72112000-72117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:72112800-72116000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:72112800-72116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:72112800-72118200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:72113000-72117400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:72113200-72115800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:72113200-72115800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:72113200-72116200	Enhancers	Psoas Muscle	Psoas
28	chr6:72113400-72116200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:72113400-72117200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:72113800-72116200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:72114000-72119400	Weak transcription	Right Ventricle	heart
32	chr6:72114000-72124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:72114200-72115800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:72114200-72117000	Enhancers	Fetal Kidney	kidney
35	chr6:72114200-72120600	Weak transcription	Aorta	Aorta
36	chr6:72114200-72122200	Weak transcription	Right Atrium	heart
37	chr6:72114200-72125000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:72114400-72116000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:72114400-72117000	Enhancers	HUVEC	blood vessel
40	chr6:72114400-72118200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:72114600-72116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:72114600-72117000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:72114600-72118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:72114600-72121600	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:72114600-72121800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:72114800-72116200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:72114800-72117600	Enhancers	NH-A	brain
48	chr6:72114800-72118600	Weak transcription	Brain Anterior Caudate	brain
49	chr6:72114800-72118600	Weak transcription	Small Intestine	intestine
50	chr6:72114800-72119400	Weak transcription	Fetal Intestine Small	intestine

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