Variant report

Variant	rs9484792
Chromosome Location	chr6:144005949-144005950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143996710..144001910-chr6:144005817..144014875,10	MCF-7	breast:
2	chr6:143998001..144000467-chr6:144005512..144008352,2	MCF-7	breast:
3	chr6:144000686..144002814-chr6:144004185..144006059,2	K562	blood:
4	chr6:144005095..144007441-chr6:144008353..144010500,3	K562	blood:
5	chr6:144004544..144009046-chr6:144017005..144020189,4	K562	blood:

Variant related genes	Relation type
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10046128	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11155313	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11155314	0.83[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11755709	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192231	0.82[EUR][1000 genomes]
rs12195857	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12196077	0.83[EUR][1000 genomes]
rs12196139	0.84[EUR][1000 genomes]
rs12197559	0.83[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12200984	0.83[EUR][1000 genomes]
rs12209146	0.84[EUR][1000 genomes]
rs12209438	0.84[EUR][1000 genomes]
rs12211387	0.81[EUR][1000 genomes]
rs12524982	1.00[CHB][hapmap]
rs12525281	0.81[CHB][hapmap]
rs12525974	1.00[CHB][hapmap]
rs12527275	1.00[CHB][hapmap]
rs12530178	1.00[CHB][hapmap]
rs13192672	1.00[CHB][hapmap]
rs13193972	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13194278	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13204654	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213864	0.95[EUR][1000 genomes]
rs13214196	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs1338534	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17291151	1.00[CHB][hapmap]
rs1884172	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2051009	0.81[CHB][hapmap]
rs2328507	0.90[CHB][hapmap]
rs6905279	0.92[JPT][hapmap]
rs6912373	0.92[JPT][hapmap]
rs6914096	0.90[EUR][1000 genomes]
rs6932482	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs7738603	0.86[YRI][hapmap]
rs7742129	0.86[YRI][hapmap]
rs7744358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760733	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496707	0.92[JPT][hapmap]
rs9496708	0.92[JPT][hapmap]
rs9496730	0.80[AFR][1000 genomes]
rs954349	0.92[JPT][hapmap]

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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144000600-144007800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:144000600-144008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:144000800-144008000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:144001800-144007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:144001800-144008000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:144001800-144012200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:144002000-144007600	Weak transcription	Ovary	ovary
8	chr6:144002000-144007800	Weak transcription	Aorta	Aorta
9	chr6:144002000-144007800	Weak transcription	NHDF-Ad	bronchial
10	chr6:144002000-144008400	Weak transcription	Placenta	Placenta
11	chr6:144002000-144013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:144002200-144007800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:144002200-144008000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:144002400-144007800	Weak transcription	Osteobl	bone
15	chr6:144002800-144006800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:144002800-144011200	Weak transcription	Hela-S3	cervix
17	chr6:144003000-144008000	Weak transcription	Right Atrium	heart
18	chr6:144003400-144008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:144003600-144007800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:144003600-144007800	Weak transcription	Lung	lung
21	chr6:144003600-144008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:144003600-144009800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:144003600-144015000	Weak transcription	Esophagus	oesophagus
24	chr6:144003600-144015000	Weak transcription	Gastric	stomach
25	chr6:144003800-144008800	Weak transcription	Fetal Stomach	stomach
26	chr6:144004400-144007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:144004400-144008000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:144004400-144010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:144004400-144013000	Weak transcription	Fetal Kidney	kidney
30	chr6:144004600-144008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:144004800-144007800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:144004800-144007800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:144004800-144007800	Weak transcription	Left Ventricle	heart
34	chr6:144005000-144008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:144005000-144009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:144005200-144006000	Enhancers	Right Ventricle	heart
38	chr6:144005600-144006000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:144005600-144006000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:144005600-144006000	Enhancers	Fetal Heart	heart
41	chr6:144005600-144006000	Enhancers	Small Intestine	intestine
42	chr6:144005600-144008000	Weak transcription	Psoas Muscle	Psoas
43	chr6:144005600-144016000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:144005800-144006000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:144005800-144006000	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:144005800-144006000	ZNF genes & repeats	Fetal Lung	lung
47	chr6:144005800-144007400	Weak transcription	HUVEC	blood vessel
48	chr6:144005800-144007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:144005800-144009000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:144005800-144015200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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