Variant report

Variant	rs7461560
Chromosome Location	chr8:11844673-11844674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11836841..11840054-chr8:11842955..11845395,3	MCF-7	breast:
2	chr8:11833455..11835537-chr8:11843531..11845955,2	K562	blood:
3	chr8:11838617..11840884-chr8:11844089..11846019,2	K562	blood:

Variant related genes	Relation type
ENSG00000205883	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10101748	1.00[ASN][1000 genomes]
rs1122182	1.00[CHB][hapmap]
rs1293292	1.00[CHB][hapmap]
rs1293294	1.00[CHB][hapmap]
rs1293297	1.00[CHB][hapmap]
rs1293298	1.00[CHB][hapmap]
rs1293300	1.00[CHB][hapmap]
rs1692811	1.00[CHB][hapmap]
rs1692821	1.00[CHB][hapmap]
rs1736081	1.00[CHB][hapmap]
rs1736086	1.00[CHB][hapmap]
rs2740592	1.00[CHB][hapmap]
rs3947	1.00[CHB][hapmap]
rs4839	1.00[CHB][hapmap]
rs55989623	1.00[ASN][1000 genomes]
rs6601640	1.00[ASN][1000 genomes]
rs6601642	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68012373	1.00[ASN][1000 genomes]
rs6988241	1.00[CHB][hapmap]
rs7002276	1.00[ASN][1000 genomes]
rs7015879	1.00[ASN][1000 genomes]
rs709821	1.00[CHB][hapmap]
rs709822	1.00[CHB][hapmap]
rs73195048	1.00[ASN][1000 genomes]
rs7817757	1.00[ASN][1000 genomes]
rs7820208	1.00[ASN][1000 genomes]
rs7828977	1.00[ASN][1000 genomes]
rs7831946	1.00[CHB][hapmap]
rs7834869	1.00[ASN][1000 genomes]
rs7836601	1.00[CHB][hapmap]
rs7840841	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
12	nsv1029694	chr8:11727357-11858466	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
14	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
15	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
16	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	nsv1029934	chr8:11747133-11858466	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1016332	chr8:11751798-11861797	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1016544	chr8:11754663-11849955	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv539482	chr8:11754663-11849955	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv890370	chr8:11755513-11900847	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv491752	chr8:11758865-12467543	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
23	nsv890371	chr8:11771089-11896831	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1026344	chr8:11786255-11897177	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1019489	chr8:11802328-11858466	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv917210	chr8:11805761-12404066	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
27	nsv465468	chr8:11818364-11898209	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv610294	chr8:11818364-11898209	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv890372	chr8:11840071-11951168	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11843600-11844800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr8:11843600-11844800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:11843600-11844800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:11843600-11844800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr8:11843600-11844800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr8:11843600-11844800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:11843800-11845200	Enhancers	Lung	lung
8	chr8:11844000-11844800	Enhancers	Fetal Lung	lung
9	chr8:11844000-11844800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr8:11844200-11844800	Bivalent Enhancer	NHDF-Ad	bronchial
11	chr8:11844400-11844800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr8:11844400-11844800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr8:11844400-11844800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:11844400-11844800	Bivalent Enhancer	Liver	Liver
15	chr8:11844400-11844800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
16	chr8:11844400-11844800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
17	chr8:11844400-11844800	Bivalent Enhancer	Placenta	Placenta
18	chr8:11844400-11844800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
19	chr8:11844400-11844800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr8:11844400-11844800	Bivalent Enhancer	HSMM	muscle
21	chr8:11844400-11845000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:11844400-11845000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:11844400-11845000	Enhancers	Left Ventricle	heart
24	chr8:11844600-11844800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr8:11844600-11844800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11844600-11844800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:11844600-11844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:11844600-11844800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:11844600-11844800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr8:11844600-11844800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr8:11844600-11844800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:11844600-11844800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11844600-11844800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:11844600-11844800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:11844600-11844800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr8:11844600-11844800	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr8:11844600-11844800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr8:11844600-11844800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr8:11844600-11845000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr8:11844600-11845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:11844600-11845000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:11844600-11845000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr8:11844600-11845000	Bivalent Enhancer	Fetal Heart	heart
44	chr8:11844600-11845000	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr8:11844600-11845000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr8:11844600-11845000	Enhancers	Pancreas	Pancrea
47	chr8:11844600-11845000	Enhancers	Right Ventricle	heart
48	chr8:11844600-11845000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr8:11844600-11845000	Bivalent Enhancer	HepG2	liver
50	chr8:11844600-11845000	Bivalent Enhancer	HSMMtube	muscle

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