Variant report

Variant	rs57093449
Chromosome Location	chr7:101488098-101488099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101487333..101490087-chr7:101511385..101514324,2	K562	blood:
2	chr7:101482049..101484240-chr7:101484519..101488262,3	K562	blood:
3	chr7:101482049..101483794-chr7:101485598..101488262,2	K562	blood:
4	chr7:101455526..101462599-chr7:101483700..101492237,14	K562	blood:
5	chr7:101456033..101460344-chr7:101486829..101492237,7	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28727287	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS 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	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101461800-101489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101463800-101489800	Weak transcription	NHEK	skin
3	chr7:101464600-101488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:101466800-101489800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:101467200-101490400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:101467400-101490400	Weak transcription	Fetal Lung	lung
8	chr7:101469000-101489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:101469200-101489800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:101469400-101489800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:101469600-101490000	Weak transcription	HepG2	liver
12	chr7:101470000-101496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:101472000-101490400	Weak transcription	Osteobl	bone
14	chr7:101472400-101489400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:101472800-101488600	Weak transcription	Hela-S3	cervix
16	chr7:101473400-101490600	Weak transcription	Primary T cells from cord blood	blood
17	chr7:101474800-101489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:101475000-101488600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:101475600-101488400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:101475600-101488800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:101476200-101489800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:101476200-101500000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:101476400-101488200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:101476400-101488800	Weak transcription	Esophagus	oesophagus
25	chr7:101476800-101490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:101478600-101489800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:101478800-101488600	Weak transcription	Fetal Stomach	stomach
28	chr7:101480400-101488600	Weak transcription	Thymus	Thymus
29	chr7:101482400-101488200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:101482600-101488600	Weak transcription	A549	lung
31	chr7:101482800-101488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:101482800-101488400	Weak transcription	Fetal Intestine Small	intestine
33	chr7:101482800-101488400	Weak transcription	Right Ventricle	heart
34	chr7:101482800-101488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:101482800-101488800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:101482800-101489600	Weak transcription	Right Atrium	heart
37	chr7:101482800-101489800	Weak transcription	Lung	lung
38	chr7:101485200-101489800	Weak transcription	Ovary	ovary
39	chr7:101486600-101489600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:101486800-101489000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:101487400-101488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:101487400-101488400	Weak transcription	Dnd41	blood
43	chr7:101487400-101488600	Weak transcription	Fetal Heart	heart
44	chr7:101487400-101488600	Weak transcription	Psoas Muscle	Psoas
45	chr7:101487400-101488600	Weak transcription	K562	blood
46	chr7:101487400-101490000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:101487400-101490200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:101487400-101490200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:101487600-101488600	Weak transcription	Left Ventricle	heart
50	chr7:101487800-101488400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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