Variant report

Variant	rs72982252
Chromosome Location	chr6:134275991-134275992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134275087..134281858-chr6:134303258..134309045,8	K562	blood:
2	chr6:134274795..134276335-chr6:134385306..134387182,2	MCF-7	breast:
3	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
4	chr6:134273314..134277341-chr6:134371733..134374606,4	K562	blood:
5	chr6:134275524..134278363-chr6:134292927..134296382,4	K562	blood:
6	chr6:134274656..134276857-chr6:134311331..134313340,2	K562	blood:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction
ENSG00000146411	Chromatin interaction
ENSG00000112306	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs6910014	1.00[EUR][1000 genomes]
rs72982237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982240	0.92[EUR][1000 genomes]
rs72982241	1.00[EUR][1000 genomes]
rs72982249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982261	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72982263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982268	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982291	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72982292	0.83[AMR][1000 genomes];0.92[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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3387903	chr6:134272809-134276207	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272600-134276200	Active TSS	Right Atrium	heart
2	chr6:134274800-134276000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:134274800-134276000	Flanking Active TSS	HUVEC	blood vessel
4	chr6:134275000-134276000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr6:134275000-134276000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:134275000-134276000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:134275000-134276000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr6:134275000-134276000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr6:134275000-134276000	Flanking Active TSS	NH-A	brain
10	chr6:134275000-134276400	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr6:134275000-134276600	Flanking Active TSS	Fetal Brain Male	brain
12	chr6:134275000-134276600	Enhancers	Spleen	Spleen
13	chr6:134275000-134276600	Flanking Active TSS	Dnd41	blood
14	chr6:134275000-134276800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:134275200-134276000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:134275200-134276000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:134275200-134276000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:134275200-134276000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:134275200-134276000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:134275200-134276000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:134275200-134276000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:134275200-134276000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr6:134275200-134276200	Flanking Active TSS	HMEC	breast
24	chr6:134275200-134276400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:134275200-134276400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:134275200-134276400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:134275200-134276400	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr6:134275200-134276400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr6:134275200-134276400	Flanking Active TSS	Hela-S3	cervix
30	chr6:134275200-134276600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:134275200-134276600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:134275200-134276600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:134275200-134276600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:134275200-134276600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr6:134275200-134276600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:134275200-134276600	Flanking Active TSS	NHEK	skin
37	chr6:134275200-134276600	Flanking Active TSS	NHLF	lung
38	chr6:134275200-134276800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr6:134275200-134276800	Flanking Active TSS	Fetal Brain Female	brain
40	chr6:134275400-134276000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:134275400-134276000	Weak transcription	Aorta	Aorta
42	chr6:134275400-134276000	Enhancers	Fetal Intestine Large	intestine
43	chr6:134275400-134276200	Enhancers	Primary hematopoietic stem cells	blood
44	chr6:134275400-134276200	Weak transcription	Esophagus	oesophagus
45	chr6:134275400-134276400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:134275400-134276400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:134275400-134276400	Enhancers	Pancreas	Pancrea
48	chr6:134275400-134276600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:134275400-134276600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:134275400-134276600	Enhancers	Primary monocytes fromperipheralblood	blood

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