Variant report

Variant	rs1570508
Chromosome Location	chr9:7075305-7075306
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	chr9:7074844..7076869-chr9:7078894..7081188,2	K562	blood:
2	chr9:7070852..7073798-chr9:7075026..7077389,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10758822	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815509	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs10815510	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10976026	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976029	0.82[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12683329	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1323400	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407855	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1407862	0.80[GIH][hapmap]
rs1570510	0.92[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570511	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570512	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146787	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2381536	0.81[TSI][hapmap]
rs2890733	0.83[TSI][hapmap]
rs2890736	0.88[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs3802404	0.80[CEU][hapmap];0.83[TSI][hapmap]
rs4740868	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4740870	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4742297	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4742303	0.83[EUR][1000 genomes]
rs6477140	0.96[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs6477145	0.84[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6477146	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7019042	0.81[TSI][hapmap]
rs7020696	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7027561	0.83[JPT][hapmap];0.86[TSI][hapmap]
rs7037803	0.83[JPT][hapmap];0.86[TSI][hapmap]
rs7040330	0.88[EUR][1000 genomes]
rs7045009	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960658	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs960659	0.88[CEU][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv892186	chr9:6942605-7075305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv466117	chr9:7030268-7084558	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv613258	chr9:7030268-7084558	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv523788	chr9:7064934-7075305	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv869932	chr9:7068359-7133384	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1570508	JMJD2C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7076600	Weak transcription	HSMM	muscle
2	chr9:7009200-7077600	Weak transcription	Osteobl	bone
3	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
4	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
5	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
6	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
7	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
8	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
9	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
10	chr9:7029000-7076400	Weak transcription	Ovary	ovary
11	chr9:7029000-7076600	Weak transcription	Lung	lung
12	chr9:7029000-7077400	Weak transcription	Gastric	stomach
13	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:7045400-7077000	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:7045400-7077000	Weak transcription	HMEC	breast
18	chr9:7046400-7077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr9:7049200-7075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:7049400-7076000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:7050000-7076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr9:7050000-7082200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:7050200-7076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:7050400-7076400	Weak transcription	Dnd41	blood
25	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:7051800-7076200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:7052000-7075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:7052000-7076400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:7052600-7086400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:7053000-7076200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:7053000-7076200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:7053000-7086600	Weak transcription	Fetal Intestine Large	intestine
33	chr9:7053200-7076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:7053200-7077000	Weak transcription	Brain Angular Gyrus	brain
35	chr9:7053200-7084400	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:7054400-7077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:7055600-7076000	Weak transcription	Left Ventricle	heart
39	chr9:7055600-7076200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:7056400-7076000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:7058400-7076400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:7058400-7076400	Weak transcription	Liver	Liver
43	chr9:7058400-7088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:7058600-7085000	Weak transcription	Brain Anterior Caudate	brain
45	chr9:7059200-7077000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:7059400-7082000	Weak transcription	Fetal Stomach	stomach
47	chr9:7059600-7078800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:7061200-7104600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:7061600-7103600	Weak transcription	Spleen	Spleen
50	chr9:7061800-7076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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