Variant report

Variant	rs194618
Chromosome Location	chr6:82470820-82470821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:82470738-82471520	SK-N-SH	brain:	n/a	chr6:82471306-82471316 chr6:82471042-82471049
2	JUND	chr6:82470431-82473277	SK-N-SH	brain:	n/a	chr6:82471093-82471102 chr6:82471093-82471103 chr6:82472838-82472849 chr6:82471094-82471101 chr6:82471092-82471103 chr6:82471094-82471103 chr6:82471092-82471104 chr6:82471093-82471103 chr6:82470484-82470496
3	EP300	chr6:82470455-82472858	SK-N-SH	brain:	n/a	chr6:82470823-82470837 chr6:82472760-82472774 chr6:82471094-82471103
4	JUND	chr6:82470774-82471472	SK-N-SH	brain:	n/a	chr6:82471093-82471102 chr6:82471093-82471103 chr6:82471094-82471101 chr6:82471092-82471103 chr6:82471094-82471103 chr6:82471092-82471104 chr6:82471093-82471103
5	EP300	chr6:82470756-82471511	SK-N-SH	brain:	n/a	chr6:82470823-82470837 chr6:82471094-82471103
6	PBX3	chr6:82470786-82471527	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr6:82470778-82471456	SK-N-SH	brain:	n/a	chr6:82471306-82471316 chr6:82471042-82471049
8	TCF12	chr6:82470725-82471580	SK-N-SH	brain:	n/a	n/a
9	JUND	chr6:82470775-82471357	SK-N-SH	brain:	n/a	chr6:82471093-82471102 chr6:82471093-82471103 chr6:82471094-82471101 chr6:82471092-82471103 chr6:82471094-82471103 chr6:82471092-82471104 chr6:82471093-82471103
10	TCF12	chr6:82470767-82471567	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82457043..82462432-chr6:82464909..82471112,8	MCF-7	breast:
2	chr6:82469013..82471227-chr6:82473397..82475724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219702	TF binding region
ENSG00000206886	TF binding region
ENSG00000112773	Chromatin interaction
ENSG00000206886	Chromatin interaction
ENSG00000219702	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1034241	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961442	0.95[EUR][1000 genomes]
rs11969940	0.95[EUR][1000 genomes]
rs13192697	0.87[EUR][1000 genomes]
rs13212198	0.81[EUR][1000 genomes]
rs13214556	0.84[CEU][hapmap];0.98[EUR][1000 genomes]
rs16893463	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893491	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs16893518	0.84[CEU][hapmap];0.95[EUR][1000 genomes]
rs16893523	0.91[EUR][1000 genomes]
rs16893524	0.96[EUR][1000 genomes]
rs16893526	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs16893572	0.81[EUR][1000 genomes]
rs194620	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999630	0.88[EUR][1000 genomes]
rs34138673	0.82[CEU][hapmap]
rs34411814	0.88[EUR][1000 genomes]
rs34696161	0.95[EUR][1000 genomes]
rs34723068	0.88[EUR][1000 genomes]
rs35039823	0.93[EUR][1000 genomes]
rs35392002	0.81[EUR][1000 genomes]
rs35419006	0.88[EUR][1000 genomes]
rs4476879	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs56021267	0.96[EUR][1000 genomes]
rs6454240	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs72899496	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966647	chr6:82469158-82472452	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82463800-82476000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:82463800-82477000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:82464000-82477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:82464200-82472800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:82464400-82475800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:82464600-82471800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:82465200-82472000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:82467200-82474000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:82467400-82477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:82467800-82476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:82468000-82476000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:82468400-82471800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:82468800-82472000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:82468800-82472000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:82468800-82472200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:82469000-82471000	Enhancers	HepG2	liver
17	chr6:82469000-82472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:82469000-82472200	Enhancers	NHEK	skin
19	chr6:82469200-82472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:82469200-82472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:82469200-82472600	Enhancers	HMEC	breast
22	chr6:82469200-82473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:82469600-82472600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:82469600-82472800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:82469600-82472800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:82469600-82473200	Enhancers	Osteobl	bone
27	chr6:82469800-82472000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:82469800-82472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:82469800-82473400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:82469800-82475600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:82469800-82476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:82470000-82476200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:82470400-82471600	Enhancers	HSMM	muscle
34	chr6:82470400-82473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:82470400-82473200	Enhancers	Hela-S3	cervix
36	chr6:82470600-82471000	Enhancers	Fetal Stomach	stomach
37	chr6:82470600-82471000	Enhancers	Stomach Mucosa	stomach
38	chr6:82470600-82471800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:82470600-82471800	Enhancers	A549	lung
40	chr6:82470600-82472400	Enhancers	NH-A	brain
41	chr6:82470600-82474200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:82470600-82474200	Enhancers	NHDF-Ad	bronchial
43	chr6:82470800-82471600	Enhancers	HUVEC	blood vessel
44	chr6:82470800-82472400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:82470800-82473200	Enhancers	NHLF	lung
46	chr6:82470800-82475800	Weak transcription	Fetal Intestine Large	intestine
47	chr6:82470800-82475800	Weak transcription	Small Intestine	intestine

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