Variant report

Variant	rs9295949
Chromosome Location	chr6:31045801-31045802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30843541..30845641-chr6:31044541..31046117,2	K562	blood:
2	chr6:31037450..31039191-chr6:31044569..31047052,2	K562	blood:
3	chr6:30882140..30883858-chr6:31045437..31047205,2	K562	blood:

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000137411	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10947135	0.81[ASN][1000 genomes]
rs12527394	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529288	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662091	0.81[ASN][1000 genomes]
rs2233970	0.81[ASN][1000 genomes]
rs2233973	0.80[ASN][1000 genomes]
rs2233983	0.81[ASN][1000 genomes]
rs2233984	0.81[ASN][1000 genomes]
rs2233985	0.81[ASN][1000 genomes]
rs2517473	0.81[ASN][1000 genomes]
rs2894179	0.95[ASN][1000 genomes]
rs34209658	0.93[ASN][1000 genomes]
rs35802713	0.93[ASN][1000 genomes]
rs3734854	0.81[ASN][1000 genomes]
rs4713431	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947246	0.85[ASN][1000 genomes]
rs4947296	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947297	0.93[ASN][1000 genomes]
rs4947299	0.89[ASN][1000 genomes]
rs4947302	0.85[ASN][1000 genomes]
rs9263460	0.99[ASN][1000 genomes]
rs9263477	0.99[ASN][1000 genomes]
rs9263499	0.94[ASN][1000 genomes]
rs9263512	0.95[ASN][1000 genomes]
rs9263572	0.92[ASN][1000 genomes]
rs9263578	0.92[ASN][1000 genomes]
rs9295950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348854	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9357108	0.93[ASN][1000 genomes]
rs9380215	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380217	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9391708	0.85[ASN][1000 genomes]
rs9391709	0.81[ASN][1000 genomes]
rs9394037	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394038	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9405049	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
10	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
11	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
12	nsv884134	chr6:31028345-31048263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31037000-31047400	Weak transcription	Right Atrium	heart
3	chr6:31038600-31047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:31039000-31047400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:31039000-31047400	Weak transcription	Fetal Brain Male	brain
6	chr6:31039000-31047400	Weak transcription	HMEC	breast
7	chr6:31039000-31048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:31039200-31047400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:31039200-31047400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:31040200-31047400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:31040400-31047200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:31040400-31047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:31040600-31047200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:31040600-31047400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:31040600-31047400	Weak transcription	Esophagus	oesophagus
16	chr6:31040600-31047400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:31040600-31047400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:31040600-31047400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:31040600-31055000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:31040600-31062400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:31040800-31047400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:31040800-31047400	Weak transcription	HUVEC	blood vessel
23	chr6:31041000-31047200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:31041000-31047400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:31041600-31047400	Weak transcription	Brain Germinal Matrix	brain
26	chr6:31041600-31047400	Weak transcription	Fetal Lung	lung
27	chr6:31041600-31047400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:31041600-31047400	Weak transcription	GM12878-XiMat	blood
29	chr6:31041600-31047400	Weak transcription	Hela-S3	cervix
30	chr6:31041600-31053200	Weak transcription	NH-A	brain
31	chr6:31041800-31047400	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:31042400-31046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:31042400-31047200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:31042400-31047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:31042600-31047000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:31042600-31047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:31043200-31051200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:31043800-31047400	Weak transcription	NHLF	lung
39	chr6:31044000-31047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:31044200-31047200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:31044200-31047400	Weak transcription	NHDF-Ad	bronchial
42	chr6:31044600-31047200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:31044600-31049800	Weak transcription	HSMMtube	muscle
44	chr6:31044800-31047400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:31045000-31047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:31045000-31047400	Weak transcription	Osteobl	bone

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