Variant report

Variant	rs568466568
Chromosome Location	chr7:120647994-120647995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120646087..120648520-chr7:120680329..120682630,2	K562	blood:
2	chr7:120644958..120648520-chr7:120680179..120682620,4	K562	blood:
3	chr7:120646710..120649505-chr7:120714634..120717834,3	K562	blood:
4	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
5	chr7:120616082..120617788-chr7:120647461..120650370,2	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv12328	chr7:120647816-120648879	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120645800-120648000	Enhancers	HSMMtube	muscle
3	chr7:120645800-120648000	Transcr. at gene 5' and 3'	K562	blood
4	chr7:120646000-120648000	Enhancers	Fetal Lung	lung
5	chr7:120646000-120648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:120646000-120649400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:120646000-120650600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:120646400-120648000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:120646600-120648000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120646600-120648000	Enhancers	Ovary	ovary
13	chr7:120646600-120648000	Enhancers	Psoas Muscle	Psoas
14	chr7:120646800-120648000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120646800-120648000	Enhancers	Left Ventricle	heart
16	chr7:120646800-120652600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
18	chr7:120647200-120651000	Weak transcription	NHDF-Ad	bronchial
19	chr7:120647200-120651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:120647200-120652000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
22	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:120647400-120648800	Weak transcription	Aorta	Aorta
24	chr7:120647400-120650600	Weak transcription	HSMM	muscle
25	chr7:120647400-120652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:120647400-120652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:120647600-120649000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:120647600-120656200	Weak transcription	NHLF	lung
30	chr7:120647800-120648000	Enhancers	Liver	Liver
31	chr7:120647800-120648000	Enhancers	Fetal Stomach	stomach
32	chr7:120647800-120648000	Enhancers	Spleen	Spleen
33	chr7:120647800-120649000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:120647800-120650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood

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