Variant report

Variant	rs80061485
Chromosome Location	chr1:197583927-197583928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197581999..197584839-chr1:197586901..197591270,6	K562	blood:
2	chr1:197580036..197581716-chr1:197583304..197586110,2	K562	blood:
3	chr1:197583852..197585003-chr1:197884312..197885694,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143355	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	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
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv947368	chr1:197583911-197587403	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
2	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:197537800-197585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
6	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
7	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:197547000-197587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:197547400-197602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:197551400-197585600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:197553000-197585400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:197560200-197585400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:197560200-197591400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:197561200-197584400	Weak transcription	Liver	Liver
17	chr1:197561200-197585400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:197561400-197589800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:197564400-197585400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:197564400-197585600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:197564600-197585400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:197564800-197584000	Weak transcription	Dnd41	blood
23	chr1:197564800-197590000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:197564800-197599200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:197564800-197599400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:197565000-197611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:197569600-197590000	Weak transcription	Pancreas	Pancrea
28	chr1:197570200-197590000	Weak transcription	Psoas Muscle	Psoas
29	chr1:197574000-197587000	Weak transcription	Fetal Lung	lung
30	chr1:197576400-197584200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:197578600-197611000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:197579000-197599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:197579400-197599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:197581000-197602600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:197581600-197588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:197583000-197585600	Weak transcription	NHEK	skin
37	chr1:197583200-197585600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:197583400-197585800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:197583800-197584600	Strong transcription	Primary T cells from cord blood	blood
40	chr1:197583800-197586600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:197583800-197599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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