Variant report

Variant	rs1324684
Chromosome Location	chr6:147200786-147200787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147200323..147203212-chr6:147234929..147236464,2	MCF-7	breast:
2	chr6:147199344..147201581-chr6:147203117..147205673,2	MCF-7	breast:
3	chr6:147199212..147201733-chr6:147207902..147209684,2	MCF-7	breast:
4	chr6:147200700..147210109-chr6:147522792..147529002,17	K562	blood:

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1022877	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs1408575	0.81[CHD][hapmap]
rs1467623	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1924692	0.94[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs1966195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4605907	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4896895	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6915214	0.81[CHB][hapmap]
rs877660	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs912580	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9373515	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9377033	0.88[CHD][hapmap]
rs9390434	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9390436	0.92[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9390437	0.81[CHD][hapmap]
rs9403826	0.81[CHD][hapmap]

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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147193000-147200800	Weak transcription	Esophagus	oesophagus
2	chr6:147196800-147200800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:147196800-147202200	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:147197000-147201400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:147197200-147200800	Enhancers	Primary B cells from cord blood	blood
6	chr6:147197800-147200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:147197800-147202200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:147198000-147203000	Weak transcription	Small Intestine	intestine
9	chr6:147198200-147203600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:147198200-147205600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:147198400-147201000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:147198800-147202800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:147199200-147200800	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:147199400-147201200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:147199400-147202600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:147199600-147201400	Flanking Active TSS	K562	blood
17	chr6:147200000-147205600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:147200200-147201200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:147200200-147201400	Weak transcription	Fetal Kidney	kidney
20	chr6:147200200-147204800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:147200200-147205000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:147200200-147205400	Weak transcription	Liver	Liver
23	chr6:147200200-147208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:147200400-147204800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:147200400-147205000	Weak transcription	Fetal Intestine Large	intestine
26	chr6:147200600-147200800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:147200600-147202800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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