Variant report

Variant	rs2473603
Chromosome Location	chr6:53777281-53777282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:53773618..53775142-chr6:53776237..53778157,2	K562	blood:
2	chr6:53775665..53777635-chr6:53782933..53785644,2	MCF-7	breast:
3	chr6:53658683..53661137-chr6:53774256..53778054,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137269	Chromatin interaction
ENSG00000228614	Chromatin interaction
ENSG00000271218	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10498795	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12196155	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1543356	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16884427	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223617	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473599	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2473601	0.86[EUR][1000 genomes]
rs2494087	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2494089	0.86[EUR][1000 genomes]
rs2494090	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2494091	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2745460	0.87[EUR][1000 genomes]
rs2820217	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820218	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272222	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276504	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4380749	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4397225	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4476827	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4580851	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6903532	0.81[AMR][1000 genomes]
rs6905927	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6908101	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925165	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs761135	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7752696	0.81[AMR][1000 genomes]
rs9464005	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9474672	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53752800-53782000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:53754800-53779800	Weak transcription	NHLF	lung
3	chr6:53755000-53779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:53756000-53781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:53759200-53787600	Weak transcription	Spleen	Spleen
6	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
7	chr6:53759400-53786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:53759600-53789800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:53760400-53789400	Weak transcription	Stomach Mucosa	stomach
10	chr6:53760400-53791200	Weak transcription	Hela-S3	cervix
11	chr6:53760600-53778800	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:53761000-53782000	Weak transcription	Fetal Kidney	kidney
14	chr6:53761000-53782800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:53761000-53785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:53761400-53787400	Weak transcription	HMEC	breast
17	chr6:53761400-53791200	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:53761600-53790800	Weak transcription	Fetal Heart	heart
19	chr6:53761800-53786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:53762000-53791200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:53762000-53791600	Weak transcription	Fetal Lung	lung
22	chr6:53762200-53786800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:53764400-53784600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:53768600-53785000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:53768800-53778600	Weak transcription	Aorta	Aorta
26	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:53769000-53785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:53769200-53778600	Weak transcription	Esophagus	oesophagus
29	chr6:53769200-53790400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:53769400-53777600	Weak transcription	Small Intestine	intestine
31	chr6:53769600-53785200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:53769800-53779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:53769800-53784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:53769800-53784400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:53770000-53778600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:53770000-53778600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:53770000-53781800	Weak transcription	HSMM	muscle
38	chr6:53770000-53782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:53770400-53778800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:53770600-53787400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:53770800-53778600	Weak transcription	Fetal Stomach	stomach
43	chr6:53771200-53778600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:53771200-53778600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:53771200-53778600	Weak transcription	Thymus	Thymus
46	chr6:53771200-53785000	Weak transcription	Left Ventricle	heart
47	chr6:53771400-53778400	Weak transcription	HepG2	liver
48	chr6:53771600-53778000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr6:53771800-53777400	Weak transcription	Fetal Intestine Large	intestine
50	chr6:53771800-53779000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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