Variant report

Variant	rs12721594
Chromosome Location	chr6:36652021-36652022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36631889..36633994-chr6:36649894..36652299,3	K562	blood:
2	chr6:36650715..36656032-chr6:36664945..36667924,5	MCF-7	breast:
3	chr12:81050417..81052003-chr6:36650116..36652674,2	MCF-7	breast:
4	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
5	chr6:36561682..36564550-chr6:36650223..36652038,2	K562	blood:
6	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
7	chr6:36650647..36652675-chr6:36655883..36658117,2	MCF-7	breast:
8	chr6:36649100..36652081-chr6:36702052..36705068,3	MCF-7	breast:
9	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
10	chr6:36560538..36562550-chr6:36650769..36653257,2	MCF-7	breast:
11	chr6:36650316..36652178-chr6:36659155..36660681,2	MCF-7	breast:
12	chr6:36650062..36652279-chr6:36667260..36670117,2	MCF-7	breast:
13	chr6:36650057..36652668-chr6:36663338..36666266,2	K562	blood:
14	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000220349	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1864749	1.00[MEX][hapmap]
rs4986866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs4986867	1.00[CHB][hapmap]
rs853880	1.00[CEU][hapmap]

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	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv602949	chr6:36646788-36652067	Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36648800-36652400	Enhancers	Primary hematopoietic stem cells	blood
2	chr6:36648800-36653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:36649000-36654200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:36649000-36654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:36649400-36652400	Enhancers	Fetal Thymus	thymus
6	chr6:36649400-36654200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:36649600-36652200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:36649600-36652600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:36649800-36652400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:36649800-36652400	Genic enhancers	Left Ventricle	heart
11	chr6:36649800-36652400	Genic enhancers	Lung	lung
12	chr6:36649800-36653400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:36649800-36654200	Genic enhancers	Adipose Nuclei	Adipose
14	chr6:36650000-36652200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:36650000-36652400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:36650200-36652200	Genic enhancers	Fetal Intestine Large	intestine
17	chr6:36650400-36652400	Genic enhancers	HMEC	breast
18	chr6:36650400-36652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:36650400-36654400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr6:36650400-36655200	Strong transcription	Aorta	Aorta
21	chr6:36650400-36656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:36650600-36652400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:36650600-36654600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:36650600-36655000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:36650600-36655600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:36650600-36655600	Strong transcription	HSMMtube	muscle
27	chr6:36650600-36655600	Strong transcription	NH-A	brain
28	chr6:36650800-36652400	Genic enhancers	Right Ventricle	heart
29	chr6:36650800-36655000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:36650800-36655000	Weak transcription	K562	blood
31	chr6:36650800-36656000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:36650800-36659600	Weak transcription	Right Atrium	heart
33	chr6:36651000-36652400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:36651000-36652400	Genic enhancers	A549	lung
35	chr6:36651000-36653000	Strong transcription	HUVEC	blood vessel
36	chr6:36651000-36654800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr6:36651000-36654800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr6:36651000-36655200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:36651000-36655400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:36651200-36654600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr6:36651200-36654600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
42	chr6:36651200-36655200	Strong transcription	NHLF	lung
43	chr6:36651200-36655600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:36651200-36655600	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr6:36651200-36655600	Strong transcription	Fetal Stomach	stomach
46	chr6:36651200-36655600	Strong transcription	HSMM	muscle
47	chr6:36651200-36655800	Strong transcription	NHDF-Ad	bronchial
48	chr6:36651200-36656000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr6:36651200-36656200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:36651200-36660000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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