Variant report

Variant	rs240361
Chromosome Location	chr6:75911793-75911794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75910258..75913298-chr6:75914127..75916730,7	MCF-7	breast:
2	chr6:75857171..75857705-chr6:75911370..75911930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs117512	1.00[JPT][hapmap]
rs11961252	0.85[YRI][hapmap]
rs13220419	0.83[YRI][hapmap]
rs147523	1.00[JPT][hapmap]
rs240362	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs240364	1.00[YRI][hapmap]
rs240369	1.00[JPT][hapmap]
rs240381	1.00[JPT][hapmap]
rs240386	1.00[JPT][hapmap]
rs240389	1.00[JPT][hapmap]
rs240391	1.00[YRI][hapmap]
rs240393	1.00[JPT][hapmap]
rs240396	1.00[JPT][hapmap]
rs240398	1.00[JPT][hapmap]
rs240401	1.00[JPT][hapmap]
rs240402	1.00[JPT][hapmap]
rs240403	1.00[JPT][hapmap]
rs240405	1.00[JPT][hapmap]
rs240429	1.00[JPT][hapmap]
rs240430	1.00[JPT][hapmap]
rs240436	0.86[YRI][hapmap]
rs240716	0.84[YRI][hapmap]
rs240718	0.90[YRI][hapmap]
rs240739	0.84[YRI][hapmap]
rs240740	0.84[YRI][hapmap]
rs240742	0.90[YRI][hapmap]
rs2703709	0.84[YRI][hapmap]
rs2842449	0.84[YRI][hapmap]
rs2842460	0.84[YRI][hapmap]
rs2951941	0.81[YRI][hapmap]
rs2998373	0.81[YRI][hapmap]
rs381141	1.00[JPT][hapmap]
rs397039	1.00[JPT][hapmap]
rs418485	1.00[JPT][hapmap]
rs428406	1.00[YRI][hapmap]
rs429746	1.00[JPT][hapmap]
rs507912	1.00[JPT][hapmap]
rs578715	0.84[YRI][hapmap]
rs588100	0.84[YRI][hapmap]
rs612266	0.84[YRI][hapmap]
rs638590	1.00[JPT][hapmap]
rs654428	1.00[JPT][hapmap]
rs683406	1.00[YRI][hapmap]
rs683943	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
11	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75898400-75911800	Weak transcription	HSMMtube	muscle
2	chr6:75907800-75911800	Weak transcription	Fetal Kidney	kidney
3	chr6:75908400-75915400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:75910600-75913400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:75910600-75914000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:75911000-75912000	Flanking Active TSS	HMEC	breast
7	chr6:75911000-75913000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr6:75911000-75913800	Transcr. at gene 5' and 3'	Osteobl	bone
9	chr6:75911200-75911800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr6:75911200-75912200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:75911200-75912200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:75911200-75912400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:75911200-75913800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:75911400-75911800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:75911400-75911800	Flanking Active TSS	Ovary	ovary
16	chr6:75911400-75912000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr6:75911400-75912200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:75911400-75912200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:75911400-75912200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:75911400-75912200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr6:75911400-75912400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr6:75911400-75912400	Active TSS	Right Atrium	heart
23	chr6:75911400-75912600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:75911400-75912600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:75911400-75912600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:75911400-75912800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:75911400-75912800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:75911400-75912800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:75911400-75912800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:75911400-75912800	Bivalent Enhancer	Fetal Heart	heart
31	chr6:75911400-75912800	Flanking Active TSS	NH-A	brain
32	chr6:75911600-75911800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr6:75911600-75911800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:75911600-75911800	Enhancers	Aorta	Aorta
35	chr6:75911600-75911800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
36	chr6:75911600-75911800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
37	chr6:75911600-75911800	Enhancers	Esophagus	oesophagus
38	chr6:75911600-75911800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr6:75911600-75911800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr6:75911600-75911800	Enhancers	Gastric	stomach
41	chr6:75911600-75911800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:75911600-75911800	Flanking Active TSS	HSMM	muscle
43	chr6:75911600-75912000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:75911600-75912000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:75911600-75912000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:75911600-75912000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:75911600-75912000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:75911600-75912000	Active TSS	Colon Smooth Muscle	Colon
49	chr6:75911600-75912000	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:75911600-75912000	Flanking Active TSS	Right Ventricle	heart

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