Variant report

Variant	rs524300
Chromosome Location	chr6:131463556-131463557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131456092..131458598-chr6:131462926..131464450,2	K562	blood:

Variant related genes	Relation type
ENSG00000118507	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12194130	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2698107	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698108	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4591867	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512707	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs623815	0.96[ASN][1000 genomes]
rs6917207	0.82[CHB][hapmap]
rs6942184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483226	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457200-131493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:131457200-131504400	Weak transcription	Spleen	Spleen
3	chr6:131457400-131470600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:131457600-131464400	Weak transcription	Esophagus	oesophagus
5	chr6:131457600-131466600	Weak transcription	Left Ventricle	heart
6	chr6:131457600-131471000	Weak transcription	Placenta	Placenta
7	chr6:131457600-131472600	Weak transcription	Pancreas	Pancrea
8	chr6:131457600-131505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
10	chr6:131457800-131463600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:131457800-131469600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:131457800-131470200	Weak transcription	NH-A	brain
13	chr6:131457800-131476000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:131457800-131480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:131457800-131481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:131457800-131486800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:131457800-131487800	Weak transcription	Psoas Muscle	Psoas
18	chr6:131457800-131504200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:131457800-131504200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:131458000-131466400	Weak transcription	NHLF	lung
21	chr6:131458000-131466800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:131458000-131468600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:131458000-131468800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:131458000-131470400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:131458000-131471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:131458000-131471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:131458000-131485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:131458000-131487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:131458000-131498800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:131458000-131505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:131458000-131505800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:131458200-131466800	Weak transcription	Adipose Nuclei	Adipose
33	chr6:131458200-131467200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:131458200-131467200	Weak transcription	Brain Substantia Nigra	brain
35	chr6:131458200-131467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:131458200-131470800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:131458200-131480600	Weak transcription	NHDF-Ad	bronchial
38	chr6:131458200-131486600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:131458200-131505200	Weak transcription	Fetal Lung	lung
40	chr6:131458200-131513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:131458400-131463800	Weak transcription	HepG2	liver
42	chr6:131458400-131464400	Weak transcription	Brain Anterior Caudate	brain
43	chr6:131458400-131466600	Weak transcription	Ovary	ovary
44	chr6:131458400-131466800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:131458400-131484800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:131458400-131485000	Weak transcription	Brain Angular Gyrus	brain
47	chr6:131458400-131498000	Weak transcription	Aorta	Aorta
48	chr6:131458400-131504200	Weak transcription	Dnd41	blood
49	chr6:131460000-131463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:131461200-131494600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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