Variant report

Variant	rs191604280
Chromosome Location	chr7:66120820-66120821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
2	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
3	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
4	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
5	chr7:66052648..66055044-chr7:66119940..66122450,2	K562	blood:
6	chr7:66120659..66123648-chr7:66152144..66153650,2	K562	blood:
7	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
8	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
9	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
10	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
11	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
12	chr7:66119671..66121376-chr7:66145999..66148457,2	MCF-7	breast:
13	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription 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 target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv970517	chr7:66120041-66121468	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
8	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:66118400-66121000	Active TSS	Osteobl	bone
12	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:66118600-66121000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:66118600-66121000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:66118600-66121000	Active TSS	Brain Hippocampus Middle	brain
17	chr7:66118600-66121000	Active TSS	Fetal Intestine Small	intestine
18	chr7:66118600-66121000	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:66118600-66121000	Active TSS	Right Ventricle	heart
20	chr7:66118600-66121000	Active TSS	A549	lung
21	chr7:66118600-66121200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:66118600-66121200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:66118600-66121200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:66118600-66121400	Active TSS	HSMM	muscle
25	chr7:66118600-66121600	Active TSS	HSMMtube	muscle
26	chr7:66118600-66121600	Active TSS	NHLF	lung
27	chr7:66118800-66121000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:66118800-66121000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:66118800-66121000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66118800-66121000	Active TSS	Ovary	ovary
31	chr7:66118800-66121200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:66118800-66121200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:66119000-66121600	Active TSS	Stomach Smooth Muscle	stomach
34	chr7:66120200-66121000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:66120200-66121200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:66120200-66121200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:66120200-66121400	Enhancers	Spleen	Spleen
38	chr7:66120200-66121400	Flanking Active TSS	Dnd41	blood
39	chr7:66120400-66121000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:66120400-66121000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:66120400-66121000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:66120400-66121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:66120400-66127400	Weak transcription	Lung	lung
44	chr7:66120400-66127600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:66120600-66121000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:66120600-66121000	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:66120600-66121000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:66120600-66121000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:66120600-66121000	Enhancers	Duodenum Mucosa	Duodenum
50	chr7:66120600-66121000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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