Variant report

Variant	rs10783775
Chromosome Location	chr12:56339545-56339546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56321849..56325504-chr12:56337027..56340610,4	MCF-7	breast:
2	chr12:56336817..56339592-chr12:56341628..56344716,3	K562	blood:
3	chr12:56333773..56335959-chr12:56338330..56340507,2	MCF-7	breast:
4	chr12:56328221..56329747-chr12:56339038..56341881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065357	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128982	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1052206	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747760	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783774	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876862	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171688	0.93[AFR][1000 genomes]
rs1136082	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298127	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1681070	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1701698	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701699	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2101718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414258	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61956428	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581087	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs705711	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs705715	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297871	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302957	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7308505	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7312870	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs772461	0.93[AFR][1000 genomes]
rs772462	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs772468	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs772473	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs772475	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes]
rs772700	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs772704	0.94[CEU][hapmap]
rs9739192	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9739196	0.86[EUR][1000 genomes];0.84[ASN][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56326400-56345000	Weak transcription	Ovary	ovary
2	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
3	chr12:56332000-56339800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:56334000-56345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:56334200-56340000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:56334200-56340200	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr12:56334200-56343600	Strong transcription	Primary B cells from cord blood	blood
9	chr12:56334200-56345400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:56334400-56343600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56334400-56343800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:56334400-56345000	Weak transcription	Left Ventricle	heart
14	chr12:56334400-56345200	Weak transcription	Lung	lung
15	chr12:56334400-56345400	Weak transcription	Liver	Liver
16	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
19	chr12:56334600-56339800	Strong transcription	Esophagus	oesophagus
20	chr12:56334600-56340000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:56334600-56340200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:56334600-56340200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:56334600-56340400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr12:56334600-56340600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:56334600-56340600	Strong transcription	Placenta	Placenta
26	chr12:56334600-56342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:56334600-56342600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:56334600-56343000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:56334600-56343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:56334600-56343400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:56334600-56343600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:56334600-56343600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:56334600-56344800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:56334600-56345000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:56334600-56345000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:56334600-56345000	Weak transcription	Brain Angular Gyrus	brain
37	chr12:56334600-56345000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:56334600-56345200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:56334600-56345200	Weak transcription	Pancreas	Pancrea
40	chr12:56334600-56345200	Weak transcription	Right Ventricle	heart
41	chr12:56334600-56345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:56334600-56345600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:56334600-56345600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:56334600-56345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:56334600-56345800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:56334600-56345800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:56334600-56346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:56334600-56346400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:56334600-56346600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:56334600-56347400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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