Variant report

Variant	rs7135005
Chromosome Location	chr12:30878564-30878565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30876314..30879121-chr12:30906276..30907809,2	K562	blood:
2	chr12:30874193..30876323-chr12:30878456..30880055,2	MCF-7	breast:
3	chr12:30847240..30850434-chr12:30877265..30880526,5	K562	blood:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction
ENSG00000110888	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10743725	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843794	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs11051009	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051026	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610452	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306961	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310942	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315407	0.87[AMR][1000 genomes]
rs12315446	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12371883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372023	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099028	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906774	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56705455	0.87[AMR][1000 genomes]
rs57153590	0.85[AMR][1000 genomes]
rs59483134	0.85[ASN][1000 genomes]
rs6487924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487929	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302501	0.83[AFR][1000 genomes]
rs7302606	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302757	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305665	0.87[AFR][1000 genomes]
rs7306125	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310127	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7315859	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73292874	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74083892	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955626	0.82[AMR][1000 genomes]
rs7963438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963524	0.94[ASN][1000 genomes]
rs7968669	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7972061	0.82[AMR][1000 genomes]
rs7974251	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9651844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
3	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
4	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
6	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
8	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
14	chr12:30861800-30879000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:30862000-30878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:30862000-30879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:30862200-30879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:30863400-30881600	Weak transcription	Gastric	stomach
24	chr12:30863400-30882800	Weak transcription	Brain Substantia Nigra	brain
25	chr12:30863400-30885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
27	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
28	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:30865000-30881600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:30865400-30881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:30867200-30881600	Weak transcription	Lung	lung
33	chr12:30867400-30881600	Weak transcription	Esophagus	oesophagus
34	chr12:30867400-30884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:30869600-30881600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:30869600-30886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:30869800-30889000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:30870600-30879200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:30870800-30878600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:30871200-30881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:30871400-30878600	Weak transcription	HSMMtube	muscle
42	chr12:30871400-30900800	Weak transcription	K562	blood
43	chr12:30871600-30881600	Weak transcription	Dnd41	blood
44	chr12:30871800-30881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:30872200-30880600	Weak transcription	Brain Anterior Caudate	brain
46	chr12:30872200-30881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:30872200-30881600	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:30872200-30886000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:30872400-30879000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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