Variant report

Variant	rs9262234
Chromosome Location	chr6:30813881-30813882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30709488..30712315-chr6:30811079..30813946,2	MCF-7	breast:
2	chr6:30812341..30814301-chr6:30849835..30851966,2	K562	blood:
3	chr6:30718958..30721409-chr6:30812435..30814738,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137312	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs14350	0.83[EUR][1000 genomes]
rs2247178	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2394393	0.83[EUR][1000 genomes]
rs2429557	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429643	0.83[EUR][1000 genomes]
rs2517562	0.83[EUR][1000 genomes]
rs2844700	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844707	0.83[EUR][1000 genomes]
rs3094107	0.83[EUR][1000 genomes]
rs3129999	0.83[EUR][1000 genomes]
rs3130674	0.83[EUR][1000 genomes]
rs3130675	0.83[EUR][1000 genomes]
rs34377509	0.83[EUR][1000 genomes]
rs9262217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262223	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262225	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262239	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262242	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262256	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262257	0.83[EUR][1000 genomes]
rs9262268	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262270	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262278	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9262280	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30806800-30816200	Enhancers	Placenta	Placenta
2	chr6:30810800-30814000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:30811000-30814000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:30811000-30814200	Genic enhancers	H1 Cell Line	embryonic stem cell
5	chr6:30812000-30814800	Weak transcription	Fetal Kidney	kidney
6	chr6:30812000-30815400	Enhancers	Thymus	Thymus
7	chr6:30812000-30816200	Enhancers	Fetal Thymus	thymus
8	chr6:30812200-30815000	Weak transcription	Adipose Nuclei	Adipose
9	chr6:30812400-30814600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:30812400-30814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:30812400-30815200	Weak transcription	HMEC	breast
12	chr6:30812400-30817000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:30812400-30822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:30812600-30814000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:30812600-30814200	Enhancers	Dnd41	blood
16	chr6:30812600-30814800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:30812600-30814800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:30812600-30814800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:30812600-30814800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:30812600-30814800	Weak transcription	NHEK	skin
21	chr6:30812600-30815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:30812600-30815000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:30812600-30815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:30812600-30815200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:30812600-30815200	Weak transcription	Esophagus	oesophagus
26	chr6:30812600-30815200	Weak transcription	Fetal Lung	lung
27	chr6:30812600-30815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:30812600-30820600	Weak transcription	Right Atrium	heart
29	chr6:30812800-30814000	Enhancers	Fetal Intestine Small	intestine
30	chr6:30812800-30817000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:30813200-30814800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:30813200-30815000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:30813400-30814000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr6:30813400-30814400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:30813400-30814600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:30813600-30814000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr6:30813600-30814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:30813600-30815000	Weak transcription	K562	blood
39	chr6:30813600-30815200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:30813600-30816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:30813800-30814600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:30813800-30814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:30813800-30814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:30813800-30815000	Weak transcription	Fetal Heart	heart

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