Variant report

Variant	rs73612497
Chromosome Location	chr6:150246464-150246465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr6:150246418-150247513	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150155818..150157641-chr6:150245238..150247988,3	MCF-7	breast:
2	chr6:150239646..150241708-chr6:150246246..150248253,2	K562	blood:
3	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
4	chr6:150208849..150210452-chr6:150245274..150246868,2	MCF-7	breast:
5	chr6:150044112..150046636-chr6:150245149..150247881,2	MCF-7	breast:
6	chr6:150155297..150157506-chr6:150246299..150249094,2	K562	blood:
7	chr6:150243800..150245856-chr6:150245979..150247636,2	MCF-7	breast:
8	chr6:150246157..150249113-chr6:150336737..150339289,2	K562	blood:

No data

Variant related genes	Relation type
RAET1G	TF binding region
ENSG00000120256	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000268592	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56865115	0.81[AFR][1000 genomes]
rs57292884	0.81[AFR][1000 genomes]
rs57516889	0.81[AFR][1000 genomes]
rs61252315	0.81[AFR][1000 genomes]
rs73612437	0.81[AFR][1000 genomes]
rs73612499	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150242800-150247800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:150244200-150246800	Enhancers	Spleen	Spleen
3	chr6:150244800-150246600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:150244800-150246600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:150244800-150246600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:150244800-150246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:150244800-150246600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr6:150244800-150246800	Weak transcription	Aorta	Aorta
9	chr6:150244800-150246800	Weak transcription	Gastric	stomach
10	chr6:150244800-150246800	Weak transcription	Lung	lung
11	chr6:150244800-150246800	Weak transcription	HSMM	muscle
12	chr6:150244800-150246800	Weak transcription	HSMMtube	muscle
13	chr6:150244800-150247000	Weak transcription	A549	lung
14	chr6:150244800-150247000	Weak transcription	Hela-S3	cervix
15	chr6:150245000-150246600	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:150246000-150246600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:150246000-150246600	Enhancers	Esophagus	oesophagus
18	chr6:150246000-150246600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr6:150246000-150246600	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr6:150246000-150246600	Enhancers	Left Ventricle	heart
21	chr6:150246000-150246800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:150246000-150246800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr6:150246200-150246600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:150246200-150246600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:150246200-150246600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr6:150246200-150246600	Enhancers	Pancreas	Pancrea
27	chr6:150246200-150246600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr6:150246200-150246800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:150246200-150246800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:150246200-150246800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:150246200-150246800	Enhancers	NHLF	lung
32	chr6:150246200-150247000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:150246200-150247000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr6:150246200-150247000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr6:150246400-150246600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:150246400-150246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:150246400-150246600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr6:150246400-150246600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:150246400-150246600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
40	chr6:150246400-150246600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr6:150246400-150246600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:150246400-150246600	Bivalent Enhancer	Fetal Lung	lung
43	chr6:150246400-150246600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr6:150246400-150246600	Bivalent Enhancer	Placenta	Placenta
45	chr6:150246400-150246600	Enhancers	Right Atrium	heart
46	chr6:150246400-150246600	Enhancers	Right Ventricle	heart
47	chr6:150246400-150246600	Bivalent Enhancer	Small Intestine	intestine
48	chr6:150246400-150246600	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:150246400-150246600	Enhancers	HUVEC	blood vessel
50	chr6:150246400-150246600	Enhancers	K562	blood

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