Variant report

Variant	rs9382253
Chromosome Location	chr6:53772716-53772717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53768489..53771106-chr6:53771711..53773800,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10755766	0.80[AMR][1000 genomes]
rs1076701	0.94[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1076702	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948775	0.80[AMR][1000 genomes]
rs2073020	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2294789	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2294790	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2294791	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3777661	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4265034	0.81[ASN][1000 genomes]
rs4314499	0.82[AMR][1000 genomes]
rs4624872	0.85[CHB][hapmap]
rs6903399	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906921	0.85[CHB][hapmap]
rs6907027	0.86[CHB][hapmap]
rs9296722	0.81[ASN][1000 genomes]
rs9349685	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9357776	0.94[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9357778	0.82[EUR][1000 genomes]
rs9370233	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9370241	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9370244	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9370246	0.82[EUR][1000 genomes]
rs9382232	0.80[AMR][1000 genomes]
rs9382233	0.80[AMR][1000 genomes]
rs9382238	0.85[EUR][1000 genomes]
rs9382241	0.85[EUR][1000 genomes]
rs9382243	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9382244	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9382246	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9382248	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9382252	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9382254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382256	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9382257	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9395876	0.80[AMR][1000 genomes]
rs9395878	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9395881	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9395887	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53752800-53782000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:53754800-53775600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:53754800-53779800	Weak transcription	NHLF	lung
4	chr6:53755000-53779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:53756000-53781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:53758000-53775600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:53759200-53787600	Weak transcription	Spleen	Spleen
8	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
9	chr6:53759400-53786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:53759600-53789800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:53760400-53789400	Weak transcription	Stomach Mucosa	stomach
12	chr6:53760400-53791200	Weak transcription	Hela-S3	cervix
13	chr6:53760600-53773000	Strong transcription	Dnd41	blood
14	chr6:53760600-53778800	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:53761000-53782000	Weak transcription	Fetal Kidney	kidney
17	chr6:53761000-53782800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:53761000-53785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:53761400-53776400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:53761400-53787400	Weak transcription	HMEC	breast
21	chr6:53761400-53791200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:53761600-53790800	Weak transcription	Fetal Heart	heart
23	chr6:53761800-53777000	Strong transcription	Fetal Thymus	thymus
24	chr6:53761800-53786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:53762000-53774000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:53762000-53775600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:53762000-53791200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:53762000-53791600	Weak transcription	Fetal Lung	lung
29	chr6:53762200-53786800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:53762800-53775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:53764400-53784600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:53766800-53773000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:53768000-53774600	Weak transcription	HUVEC	blood vessel
34	chr6:53768600-53785000	Weak transcription	Primary B cells from cord blood	blood
35	chr6:53768800-53775600	Weak transcription	Brain Germinal Matrix	brain
36	chr6:53768800-53778600	Weak transcription	Aorta	Aorta
37	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:53769000-53785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:53769200-53777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:53769200-53778600	Weak transcription	Esophagus	oesophagus
41	chr6:53769200-53790400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:53769400-53777600	Weak transcription	Small Intestine	intestine
43	chr6:53769600-53785200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:53769800-53779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:53769800-53784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:53769800-53784400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:53770000-53778600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:53770000-53778600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:53770000-53781800	Weak transcription	HSMM	muscle
50	chr6:53770000-53782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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