Variant report

Variant	rs72744914
Chromosome Location	chr1:197661576-197661577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:
2	chr1:197650384..197656370-chr1:197660434..197666309,6	K562	blood:

Variant related genes	Relation type
ENSG00000207139	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72744918	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv946566	chr1:197659060-197661728	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:197653000-197665400	Weak transcription	Osteobl	bone
3	chr1:197653400-197662000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:197654600-197662200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:197656000-197662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:197656200-197663600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:197657000-197677000	Weak transcription	Ovary	ovary
8	chr1:197657800-197663400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:197658000-197665200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:197658200-197662000	Weak transcription	Thymus	Thymus
11	chr1:197658200-197662800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:197658200-197668200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:197658400-197665000	Weak transcription	NHEK	skin
14	chr1:197658600-197662000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:197659400-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:197659400-197665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:197659400-197674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:197659600-197661600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:197659600-197665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:197659600-197665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:197659600-197665600	Weak transcription	K562	blood
22	chr1:197659600-197667000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:197659800-197662800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:197659800-197663600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:197659800-197663800	Weak transcription	Dnd41	blood
26	chr1:197659800-197674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:197660400-197661600	Enhancers	HepG2	liver
28	chr1:197660800-197661800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:197660800-197662800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:197661000-197661800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr1:197661000-197663400	Enhancers	Liver	Liver

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