Variant report

Variant	rs7300130
Chromosome Location	chr12:105597672-105597673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105589883..105591833-chr12:105596630..105599143,3	K562	blood:
2	chr12:105596266..105598085-chr12:105600191..105602690,2	K562	blood:
3	chr12:105596446..105601745-chr12:105601750..105606856,8	MCF-7	breast:
4	chr12:105592769..105599626-chr12:105599908..105606799,7	MCF-7	breast:
5	chr12:105595599..105598152-chr12:105628448..105630073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10083185	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10161513	1.00[ASN][1000 genomes]
rs11112381	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112389	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112410	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11559871	0.83[EUR][1000 genomes]
rs11829598	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12299366	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12308444	0.82[EUR][1000 genomes]
rs12311156	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12317637	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56284118	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56862143	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835294	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60999193	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132816	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133728	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136453	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7138574	0.94[EUR][1000 genomes]
rs7302842	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7315964	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73179990	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73179996	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73179998	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73180001	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7971630	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978034	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:105561400-105598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:105571400-105617800	Weak transcription	K562	blood
5	chr12:105576400-105606000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:105577800-105598600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:105577800-105598800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105577800-105599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105577800-105602600	Strong transcription	Fetal Thymus	thymus
12	chr12:105577800-105603600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:105577800-105605400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:105577800-105605600	Strong transcription	Primary B cells from cord blood	blood
15	chr12:105577800-105607400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:105578000-105599200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:105578000-105607400	Strong transcription	Fetal Brain Female	brain
18	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:105578400-105602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105579000-105598600	Strong transcription	HSMM	muscle
22	chr12:105579000-105605200	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:105579000-105612400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:105581200-105602600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:105581200-105605400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:105581800-105602600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:105581800-105605200	Strong transcription	Brain Germinal Matrix	brain
29	chr12:105582000-105600200	Strong transcription	Fetal Stomach	stomach
30	chr12:105582000-105602600	Strong transcription	Lung	lung
31	chr12:105582000-105603400	Strong transcription	Spleen	Spleen
32	chr12:105582800-105598200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:105582800-105602600	Strong transcription	Thymus	Thymus
34	chr12:105583600-105602600	Strong transcription	Esophagus	oesophagus
35	chr12:105583600-105605600	Strong transcription	Right Ventricle	heart
36	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:105584400-105600200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:105585400-105603400	Strong transcription	HSMMtube	muscle
39	chr12:105585600-105598400	Strong transcription	NHDF-Ad	bronchial
40	chr12:105587400-105598400	Weak transcription	Stomach Mucosa	stomach
41	chr12:105587400-105609000	Weak transcription	Fetal Brain Male	brain
42	chr12:105587800-105598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:105588000-105598600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:105589000-105600400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:105589000-105600400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:105589200-105601000	Weak transcription	Hela-S3	cervix
47	chr12:105589200-105612200	Weak transcription	Psoas Muscle	Psoas
48	chr12:105589400-105608600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:105589400-105612400	Weak transcription	Fetal Heart	heart
50	chr12:105590000-105602600	Strong transcription	Colonic Mucosa	Colon

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