Variant report

Variant	rs7024130
Chromosome Location	chr9:5925878-5925879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:5918670..5921230-chr9:5923943..5926337,3	K562	blood:
2	chr9:5925409..5927394-chr9:5940520..5942739,2	MCF-7	breast:
3	chr9:5924252..5926200-chr9:5929178..5931447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183354	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10117416	1.00[EUR][1000 genomes]
rs10121480	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10733517	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10733520	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10733521	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10733522	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10733523	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10739079	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10739082	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10758731	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10758732	1.00[CEU][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap]
rs10758734	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10815330	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10815335	1.00[CEU][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1260130	1.00[TSI][hapmap]
rs1331378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1331379	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs1418740	1.00[CEU][hapmap]
rs1478935	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1478936	1.00[EUR][1000 genomes]
rs1478937	0.85[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs1478938	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16923551	1.00[MEX][hapmap]
rs16923578	1.00[CEU][hapmap]
rs1776008	1.00[TSI][hapmap]
rs186913	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs1888703	0.90[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1888704	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2150703	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs2169906	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244053	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2244058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs2291055	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2381341	0.97[ASN][1000 genomes]
rs2381360	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2797512	1.00[TSI][hapmap]
rs2797519	1.00[TSI][hapmap]
rs2890690	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs343469	1.00[CEU][hapmap]
rs343471	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs343480	1.00[CEU][hapmap]
rs343482	1.00[CEU][hapmap]
rs343500	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs3739649	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3933800	0.87[ASN][1000 genomes]
rs4075225	1.00[CEU][hapmap]
rs4265236	1.00[CEU][hapmap]
rs4389996	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs4395943	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap]
rs4740833	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4740834	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4742131	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs4742141	0.81[ASN][1000 genomes]
rs4742142	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4742143	0.84[ASN][1000 genomes]
rs58909954	0.93[ASN][1000 genomes]
rs6477017	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs6477021	1.00[EUR][1000 genomes]
rs6477022	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6477023	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6477024	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6477025	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6477026	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7019606	1.00[CEU][hapmap]
rs7021498	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7026453	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7026454	0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7029054	0.95[ASN][1000 genomes]
rs7029833	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7030731	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7032130	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7034210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7037680	1.00[TSI][hapmap]
rs7042947	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7044750	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7851749	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7856075	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7866793	1.00[CEU][hapmap]
rs7868062	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7869571	1.00[EUR][1000 genomes]
rs7875450	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5898400-5947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:5918400-5928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:5918800-5928800	Weak transcription	Stomach Mucosa	stomach
4	chr9:5919000-5939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:5919800-5927600	Strong transcription	Adipose Nuclei	Adipose
6	chr9:5919800-5929400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:5919800-5935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:5920000-5927200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr9:5920000-5929200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr9:5920200-5926400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:5920800-5931200	Weak transcription	A549	lung
12	chr9:5920800-5938800	Weak transcription	Small Intestine	intestine
13	chr9:5921200-5926000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:5921200-5927400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:5921200-5939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:5921200-5950400	Weak transcription	Psoas Muscle	Psoas
17	chr9:5921800-5926400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:5922000-5941600	Weak transcription	HSMMtube	muscle
19	chr9:5922200-5935800	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:5922400-5926000	Weak transcription	Fetal Intestine Small	intestine
21	chr9:5922400-5926200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:5922400-5933400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:5922400-5935000	Weak transcription	Pancreas	Pancrea
24	chr9:5922400-5935200	Weak transcription	HMEC	breast
25	chr9:5922400-5939800	Weak transcription	Gastric	stomach
26	chr9:5922600-5947000	Weak transcription	Fetal Heart	heart
27	chr9:5923000-5926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:5923000-5927200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:5923000-5928400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:5923000-5936200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:5923000-5945200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:5923000-5969000	Weak transcription	Fetal Stomach	stomach
33	chr9:5923200-5933400	Weak transcription	Left Ventricle	heart
34	chr9:5923200-5933600	Weak transcription	Fetal Lung	lung
35	chr9:5923200-5934000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:5923200-5934200	Weak transcription	Colonic Mucosa	Colon
37	chr9:5923200-5934800	Weak transcription	Dnd41	blood
38	chr9:5923200-5935000	Weak transcription	Spleen	Spleen
39	chr9:5923200-5935000	Weak transcription	HepG2	liver
40	chr9:5923200-5935200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:5923200-5935800	Weak transcription	HUVEC	blood vessel
42	chr9:5923200-5938800	Weak transcription	Right Ventricle	heart
43	chr9:5923200-5939000	Weak transcription	Lung	lung
44	chr9:5923200-5939600	Weak transcription	Brain Angular Gyrus	brain
45	chr9:5923200-5943000	Weak transcription	Esophagus	oesophagus
46	chr9:5923200-5947600	Weak transcription	Fetal Kidney	kidney
47	chr9:5923200-5949200	Weak transcription	NHLF	lung
48	chr9:5923200-5968200	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:5923200-5971800	Weak transcription	NHEK	skin
50	chr9:5923200-5972400	Weak transcription	Aorta	Aorta

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