Variant report

Variant	rs550693219
Chromosome Location	chr7:150068361-150068362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
3	chr7:150063752..150069023-chr7:150095376..150104764,21	MCF-7	breast:
4	chr7:150017186..150022141-chr7:150063447..150068849,12	K562	blood:
5	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106526	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised 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	42 gene(s)	inside rSNPs	diseases
21	esv1814724	chr7:150067445-150070663	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	esv3329052	chr7:150067844-150070392	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150065000-150068400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150065400-150073600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:150066200-150069200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
4	chr7:150066400-150068400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr7:150066400-150068600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:150066600-150068400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr7:150066800-150068400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:150067000-150068600	Weak transcription	Ovary	ovary
9	chr7:150067000-150070400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:150067000-150070800	Genic enhancers	Spleen	Spleen
11	chr7:150067200-150068400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:150067200-150068400	Genic enhancers	Brain Substantia Nigra	brain
13	chr7:150067200-150068600	Genic enhancers	Lung	lung
14	chr7:150067200-150069000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
15	chr7:150067200-150069000	Enhancers	Fetal Brain Male	brain
16	chr7:150067200-150069200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:150067200-150071000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:150067200-150072000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
19	chr7:150067400-150068400	Enhancers	Esophagus	oesophagus
20	chr7:150067400-150068400	Genic enhancers	Fetal Lung	lung
21	chr7:150067400-150068400	Genic enhancers	Fetal Stomach	stomach
22	chr7:150067400-150068400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
23	chr7:150067400-150068400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr7:150067400-150068600	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr7:150067400-150068600	Enhancers	Stomach Mucosa	stomach
26	chr7:150067400-150069000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:150067400-150069800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:150067400-150071200	Genic enhancers	Right Ventricle	heart
29	chr7:150067400-150071400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:150067400-150072000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:150067600-150068400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:150067600-150068400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:150067600-150068400	Genic enhancers	Brain Angular Gyrus	brain
34	chr7:150067600-150068400	Genic enhancers	Colon Smooth Muscle	Colon
35	chr7:150067600-150068400	Genic enhancers	Fetal Muscle Leg	muscle
36	chr7:150067600-150068600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:150067600-150068600	Genic enhancers	Adipose Nuclei	Adipose
38	chr7:150067600-150068600	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:150067600-150068600	Genic enhancers	Left Ventricle	heart
40	chr7:150067600-150068600	Weak transcription	Right Atrium	heart
41	chr7:150067600-150068800	Genic enhancers	H1 Cell Line	embryonic stem cell
42	chr7:150067600-150068800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:150067600-150068800	Enhancers	NHDF-Ad	bronchial
44	chr7:150067600-150069600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:150067600-150069800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:150067600-150070800	Genic enhancers	Gastric	stomach
47	chr7:150067600-150070800	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr7:150067600-150071600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:150067600-150071800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:150067600-150071800	Genic enhancers	Liver	Liver

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