Variant report

Variant	rs56393252
Chromosome Location	chr6:167419104-167419105
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167411845..167416252-chr6:167418538..167424999,7	MCF-7	breast:
2	chr6:167411701..167414538-chr6:167414813..167420401,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227598	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000272980	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1077453	1.00[ASN][1000 genomes]
rs16899773	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269611	1.00[ASN][1000 genomes]
rs57794755	1.00[EUR][1000 genomes]
rs58449444	1.00[ASN][1000 genomes]
rs58791012	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787912	1.00[ASN][1000 genomes]
rs73787919	1.00[ASN][1000 genomes]
rs73787928	1.00[ASN][1000 genomes]
rs73789733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:167413600-167425000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:167413600-167425000	Weak transcription	Lung	lung
4	chr6:167413600-167425200	Weak transcription	Esophagus	oesophagus
5	chr6:167413600-167428600	Weak transcription	Aorta	Aorta
6	chr6:167413600-167428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:167413600-167428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:167413600-167438800	Weak transcription	Right Ventricle	heart
9	chr6:167413600-167449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:167413800-167419200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:167413800-167419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:167413800-167436800	Weak transcription	HSMMtube	muscle
14	chr6:167414400-167419400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:167414600-167419400	Weak transcription	NH-A	brain
16	chr6:167414600-167420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:167414600-167420800	Strong transcription	HSMM	muscle
18	chr6:167414600-167424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:167414600-167425000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:167414600-167425000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:167414600-167425000	Weak transcription	NHLF	lung
22	chr6:167414600-167428600	Weak transcription	Fetal Brain Male	brain
23	chr6:167414600-167429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:167414600-167429200	Strong transcription	Primary B cells from cord blood	blood
25	chr6:167414600-167430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:167414600-167433200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:167414600-167440800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:167414600-167441000	Weak transcription	Psoas Muscle	Psoas
29	chr6:167414600-167448000	Weak transcription	Small Intestine	intestine
30	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
31	chr6:167414800-167419200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:167414800-167419200	Weak transcription	Brain Anterior Caudate	brain
33	chr6:167414800-167425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:167415200-167419400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:167415200-167421200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:167415200-167425000	Weak transcription	Gastric	stomach
37	chr6:167415200-167440800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:167415400-167420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:167415400-167421800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr6:167415400-167422400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:167415400-167422600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:167415400-167422600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:167415400-167424400	Weak transcription	Fetal Brain Female	brain
44	chr6:167415400-167424800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:167415400-167424800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
47	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:167415600-167419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:167415600-167422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:167416000-167425000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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