Variant report

Variant	rs749029
Chromosome Location	chr8:130996148-130996149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130995016..130997568-chr8:131000713..131003679,2	MCF-7	breast:
2	chr8:130950694..130953984-chr8:130995818..130999558,3	MCF-7	breast:
3	chr8:130994883..130996522-chr8:131001539..131003623,2	K562	blood:
4	chr8:130995347..130998330-chr8:130998727..131000228,2	MCF-7	breast:
5	chr8:130994427..130996216-chr8:130998124..131000537,2	MCF-7	breast:
6	chr8:130994958..130999216-chr8:131005349..131009996,7	MCF-7	breast:
7	chr8:130951032..130953275-chr8:130994834..130996903,2	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10110808	0.81[ASN][1000 genomes]
rs12541347	0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547810	0.84[ASN][1000 genomes]
rs12548639	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12548670	0.81[ASN][1000 genomes]
rs12550248	0.91[CHB][hapmap]
rs13273700	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1563167	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs16904181	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs1971905	0.81[ASN][1000 genomes]
rs1976582	0.82[ASN][1000 genomes]
rs4329313	0.81[ASN][1000 genomes]
rs4733754	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4733757	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs6470789	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7003672	0.95[CHB][hapmap]
rs7016267	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7016345	0.83[ASN][1000 genomes]
rs7357390	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7388128	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7822775	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7823995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs874579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986000-130996200	Weak transcription	Hela-S3	cervix
2	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
3	chr8:130986400-130998400	Weak transcription	Fetal Thymus	thymus
4	chr8:130986600-130996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:130987400-130998200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:130988000-130996400	Weak transcription	K562	blood
7	chr8:130988200-130996200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:130988200-130996200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:130988200-130997400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:130988400-130996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:130989200-131000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:130991000-130997400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:130991000-130997800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:130992000-130996200	Weak transcription	Primary T cells from cord blood	blood
15	chr8:130993400-131000200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:130994000-130996200	Enhancers	A549	lung
17	chr8:130994000-130996200	Enhancers	NHEK	skin
18	chr8:130994000-130997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:130994200-130997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:130994200-130998400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:130994200-130999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:130994600-130996600	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr8:130994800-131001000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:130994800-131001600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:130995000-130997200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:130995200-130996600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:130995400-130996400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:130995400-130997400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:130995600-130996200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:130995800-130996200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:130995800-130996200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:130995800-130996200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:130995800-130996200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:130995800-130996200	Active TSS	Brain Germinal Matrix	brain
35	chr8:130995800-130996200	Active TSS	Fetal Intestine Large	intestine
36	chr8:130995800-130996200	Genic enhancers	Lung	lung
37	chr8:130995800-130996200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr8:130995800-130996200	Flanking Active TSS	Right Atrium	heart
39	chr8:130995800-130996200	Genic enhancers	Spleen	Spleen
40	chr8:130995800-130996200	Active TSS	NHDF-Ad	bronchial
41	chr8:130995800-130996200	Flanking Active TSS	NHLF	lung
42	chr8:130995800-130996400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr8:130995800-130996400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:130995800-130996400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:130995800-130996400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:130995800-130996400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:130995800-130996400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:130995800-130996400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:130995800-130996400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:130995800-130996400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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