Variant report

Variant	rs9590043
Chromosome Location	chr13:95259557-95259558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95253610..95255807-chr13:95256426..95259673,3	MCF-7	breast:
2	chr13:95258888..95260648-chr13:95263620..95266096,2	K562	blood:
3	chr13:95258888..95261830-chr13:95264596..95266562,2	K562	blood:
4	chr13:95246788..95248667-chr13:95257874..95259560,2	MCF-7	breast:
5	chr13:95253721..95257093-chr13:95258270..95263356,4	K562	blood:

Variant related genes	Relation type
ENSG00000152749	Chromatin interaction
ENSG00000088451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16949940	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2226077	0.85[CEU][hapmap]
rs2226078	0.80[CEU][hapmap]
rs4417425	0.81[CEU][hapmap]
rs55960139	0.87[AMR][1000 genomes]
rs61965607	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6492722	0.80[CEU][hapmap]
rs6492724	0.85[CEU][hapmap]
rs7318105	0.81[CEU][hapmap]
rs7322453	0.80[EUR][1000 genomes]
rs7330899	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7984105	0.80[CEU][hapmap]
rs7997429	0.90[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8001569	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9301978	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9516436	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs9524552	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9524564	0.81[CEU][hapmap]
rs9524570	1.00[CEU][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9590036	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9590039	0.80[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh 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	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95254600-95276600	Weak transcription	Small Intestine	intestine
2	chr13:95254600-95284000	Weak transcription	Spleen	Spleen
3	chr13:95254800-95263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:95254800-95263800	Weak transcription	Left Ventricle	heart
5	chr13:95254800-95263800	Weak transcription	Pancreas	Pancrea
6	chr13:95254800-95263800	Weak transcription	Psoas Muscle	Psoas
7	chr13:95254800-95268200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:95254800-95272000	Weak transcription	Lung	lung
9	chr13:95254800-95275400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:95254800-95275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:95254800-95288800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:95255000-95260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:95255000-95260400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:95255000-95262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:95255000-95262800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:95255000-95263200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:95255000-95263200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:95255000-95275400	Weak transcription	Aorta	Aorta
19	chr13:95255000-95275600	Weak transcription	Right Ventricle	heart
20	chr13:95255000-95276200	Weak transcription	HSMMtube	muscle
21	chr13:95255000-95281000	Weak transcription	Colonic Mucosa	Colon
22	chr13:95255200-95262000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:95255200-95262800	Weak transcription	Fetal Kidney	kidney
24	chr13:95255200-95272200	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:95255200-95276200	Weak transcription	Fetal Brain Female	brain
26	chr13:95255200-95278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:95255200-95282200	Weak transcription	Brain Angular Gyrus	brain
28	chr13:95255400-95288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr13:95255600-95268000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:95255600-95281800	Weak transcription	Fetal Brain Male	brain
31	chr13:95255600-95282600	Weak transcription	Fetal Heart	heart
32	chr13:95255800-95259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:95255800-95259800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:95255800-95259800	Weak transcription	Brain Anterior Caudate	brain
35	chr13:95255800-95260400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:95255800-95260400	Weak transcription	Brain Substantia Nigra	brain
37	chr13:95255800-95261600	Weak transcription	Primary T cells from cord blood	blood
38	chr13:95255800-95263600	Weak transcription	Fetal Intestine Small	intestine
39	chr13:95255800-95264400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:95255800-95268000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:95255800-95278000	Weak transcription	Hela-S3	cervix
42	chr13:95255800-95284000	Weak transcription	K562	blood
43	chr13:95255800-95285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:95256400-95262800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:95256600-95272000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:95257000-95262800	Weak transcription	Thymus	Thymus
47	chr13:95257000-95263800	Weak transcription	Esophagus	oesophagus
48	chr13:95257400-95259800	Genic enhancers	Dnd41	blood
49	chr13:95257400-95260000	Strong transcription	Fetal Thymus	thymus
50	chr13:95257400-95260400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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