Variant report

Variant	rs705697
Chromosome Location	chr12:56307875-56307876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56304535..56307924-chr12:56318344..56321569,3	K562	blood:
2	chr12:56306449..56310619-chr12:56320899..56323064,5	MCF-7	breast:
3	chr12:56306968..56309044-chr12:56359169..56361600,2	MCF-7	breast:
4	chr12:56307549..56310271-chr12:56316708..56318919,2	MCF-7	breast:
5	chr12:56222162..56224461-chr12:56306830..56308554,2	MCF-7	breast:
6	chr12:56306396..56308480-chr12:56322501..56324034,2	K562	blood:
7	chr12:56307383..56310841-chr12:56318368..56320626,3	K562	blood:

Variant related genes	Relation type
ENSG00000185664	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000065357	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1066130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876862	0.84[LWK][hapmap];0.82[YRI][hapmap]
rs1088050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11829187	1.00[ASN][1000 genomes]
rs11831133	1.00[ASN][1000 genomes]
rs11833164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834873	1.00[CHD][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs11838363	1.00[ASN][1000 genomes]
rs1273952	0.82[LWK][hapmap];1.00[MEX][hapmap]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689509	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs17844787	1.00[CHD][hapmap]
rs2035948	1.00[EUR][1000 genomes]
rs2046293	1.00[ASN][1000 genomes]
rs2069400	1.00[MEX][hapmap]
rs2625137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs715817	1.00[CHD][hapmap]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7302270	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73336393	1.00[ASN][1000 genomes]
rs73336399	1.00[ASN][1000 genomes]
rs73336402	1.00[ASN][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772464	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772698	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
3	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
4	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:56293600-56319200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:56293800-56319600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:56294200-56319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:56294400-56313800	Weak transcription	Ovary	ovary
10	chr12:56294400-56319600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:56294600-56308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:56296000-56319600	Weak transcription	Right Ventricle	heart
13	chr12:56296200-56319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:56296800-56319600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:56297000-56315800	Weak transcription	Aorta	Aorta
16	chr12:56297200-56315600	Weak transcription	Fetal Brain Female	brain
17	chr12:56297200-56315600	Weak transcription	Lung	lung
18	chr12:56297200-56315800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:56297200-56319200	Weak transcription	Colonic Mucosa	Colon
20	chr12:56297200-56319600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:56297200-56319600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:56297200-56320000	Weak transcription	Gastric	stomach
23	chr12:56297200-56320000	Weak transcription	Spleen	Spleen
24	chr12:56297400-56308200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:56297400-56313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:56297400-56315800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:56297400-56316000	Weak transcription	Thymus	Thymus
28	chr12:56297600-56319600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:56298000-56310400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:56299400-56310000	Weak transcription	Esophagus	oesophagus
31	chr12:56300400-56308000	Weak transcription	HUVEC	blood vessel
32	chr12:56300400-56319400	Weak transcription	HSMMtube	muscle
33	chr12:56303200-56308400	Weak transcription	NH-A	brain
34	chr12:56303400-56319600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:56303600-56308400	Weak transcription	Small Intestine	intestine
36	chr12:56303600-56308600	Weak transcription	NHLF	lung
37	chr12:56303600-56319600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:56303800-56308400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:56303800-56308400	Weak transcription	A549	lung
40	chr12:56303800-56308800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:56303800-56310200	Weak transcription	K562	blood
42	chr12:56303800-56315800	Weak transcription	Brain Substantia Nigra	brain
43	chr12:56303800-56319400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:56303800-56319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:56303800-56319600	Weak transcription	Brain Anterior Caudate	brain
46	chr12:56304000-56308600	Weak transcription	Stomach Mucosa	stomach
47	chr12:56304000-56319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:56304200-56308000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:56304600-56308400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:56304800-56308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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