Variant report

Variant	rs3130788
Chromosome Location	chr6:30810993-30810994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30710179..30712517-chr6:30808321..30811657,4	MCF-7	breast:
2	chr6:30708712..30711147-chr6:30810186..30812455,3	K562	blood:
3	chr6:30810334..30813136-chr6:30813626..30816587,2	K562	blood:
4	chr6:30796462..30798109-chr6:30809712..30812488,2	K562	blood:
5	chr6:30809749..30812115-chr6:30849210..30852847,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137312	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000272273	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2253705	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2517459	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2532932	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2894059	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3094108	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094719	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3095345	0.96[ASN][1000 genomes]
rs3130648	1.00[ASN][1000 genomes]
rs3130779	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130780	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130797	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3131028	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3131032	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3131034	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3891155	0.81[AFR][1000 genomes]
rs56366011	0.82[AFR][1000 genomes]
rs6933400	0.81[AFR][1000 genomes]
rs6933909	0.81[AFR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
2	chr6:30797200-30812000	Weak transcription	Lung	lung
3	chr6:30799200-30812200	Weak transcription	Spleen	Spleen
4	chr6:30803200-30811400	Enhancers	Fetal Thymus	thymus
5	chr6:30803200-30811400	Enhancers	Thymus	Thymus
6	chr6:30803800-30811200	Enhancers	Dnd41	blood
7	chr6:30804600-30811200	Weak transcription	Adipose Nuclei	Adipose
8	chr6:30804600-30811200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:30804600-30811600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:30805000-30811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:30805600-30811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:30805800-30811000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:30805800-30811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:30806600-30811600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:30806800-30811400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr6:30806800-30816200	Enhancers	Placenta	Placenta
17	chr6:30807000-30811000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:30807400-30812200	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:30807800-30811000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr6:30807800-30811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:30807800-30811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:30808000-30811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:30808000-30811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:30808200-30812000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:30808200-30813600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:30808600-30811000	Weak transcription	NHEK	skin
27	chr6:30808600-30811200	Weak transcription	Fetal Intestine Small	intestine
28	chr6:30808600-30811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:30808800-30811000	Weak transcription	Fetal Intestine Large	intestine
30	chr6:30809000-30811000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:30809000-30811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:30809000-30811200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:30809000-30811800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:30809200-30811200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:30809400-30811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:30809400-30811200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:30809400-30811200	Weak transcription	Primary T cells from cord blood	blood
38	chr6:30809400-30811200	Enhancers	Pancreas	Pancrea
39	chr6:30809400-30811600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:30809600-30811000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:30809600-30811200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:30809600-30811800	Weak transcription	Esophagus	oesophagus
43	chr6:30809800-30811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:30809800-30811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:30809800-30811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:30809800-30811000	Weak transcription	Ovary	ovary
47	chr6:30809800-30811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:30809800-30811200	Enhancers	Fetal Heart	heart
49	chr6:30809800-30811400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:30810000-30811000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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