Variant report

Variant	rs240362
Chromosome Location	chr6:75912411-75912412
allele	A/G
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:

Variant related genes	Relation type
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11961252	0.83[YRI][hapmap]
rs240361	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs240364	1.00[YRI][hapmap]
rs240391	1.00[YRI][hapmap]
rs240436	1.00[YRI][hapmap]
rs240716	0.91[YRI][hapmap]
rs240718	0.91[YRI][hapmap]
rs240739	0.91[YRI][hapmap]
rs240740	0.91[YRI][hapmap]
rs240742	0.91[YRI][hapmap]
rs2842460	0.82[YRI][hapmap]
rs428406	1.00[YRI][hapmap]
rs578715	0.91[YRI][hapmap]
rs588100	0.91[YRI][hapmap]
rs598034	0.82[YRI][hapmap]
rs612266	0.91[YRI][hapmap]
rs683406	1.00[YRI][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	chr6:75908400-75915400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75910600-75913400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:75910600-75914000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:75911000-75913000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr6:75911000-75913800	Transcr. at gene 5' and 3'	Osteobl	bone
6	chr6:75911200-75913800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:75911400-75912600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:75911400-75912600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:75911400-75912600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:75911400-75912800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:75911400-75912800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:75911400-75912800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:75911400-75912800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:75911400-75912800	Bivalent Enhancer	Fetal Heart	heart
15	chr6:75911400-75912800	Flanking Active TSS	NH-A	brain
16	chr6:75911600-75912600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:75911600-75912600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:75911600-75912600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:75911600-75912600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr6:75911600-75912600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:75911600-75912600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr6:75911600-75912600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:75911600-75912600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:75911600-75912600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr6:75911600-75912600	Bivalent/Poised TSS	Colonic Mucosa	Colon
26	chr6:75911600-75912600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr6:75911600-75912600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr6:75911600-75912600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr6:75911600-75912600	Enhancers	Lung	lung
30	chr6:75911600-75912600	Transcr. at gene 5' and 3'	NHLF	lung
31	chr6:75911600-75912800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr6:75911800-75912600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr6:75911800-75912600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr6:75911800-75912600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr6:75911800-75912600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:75911800-75912800	Transcr. at gene 5' and 3'	Ovary	ovary
37	chr6:75911800-75912800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:75911800-75916400	Active TSS	HSMMtube	muscle
39	chr6:75912000-75912600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr6:75912000-75912600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr6:75912000-75912600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr6:75912000-75912600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:75912000-75912600	Active TSS	Right Ventricle	heart
44	chr6:75912000-75912600	Transcr. at gene 5' and 3'	HMEC	breast
45	chr6:75912000-75912800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:75912000-75912800	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr6:75912000-75913000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:75912200-75912600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr6:75912200-75912600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr6:75912200-75912600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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