Variant report

Variant	rs80131051
Chromosome Location	chr1:197728334-197728335
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	chr1:197722193..197724114-chr1:197726600..197728818,2	K562	blood:
2	chr1:197724120..197727338-chr1:197727664..197731046,4	K562	blood:

Variant related genes	Relation type
ENSG00000224901	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv947217	chr1:197716247-197729068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv522400	chr1:197727298-197733055	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
4	chr1:197706600-197729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:197708400-197729800	Weak transcription	NHEK	skin
7	chr1:197712200-197731000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:197713000-197732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:197713000-197734000	Weak transcription	Fetal Thymus	thymus
12	chr1:197713800-197733000	Weak transcription	Aorta	Aorta
13	chr1:197714400-197731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
15	chr1:197714600-197729800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:197714600-197730000	Weak transcription	Primary B cells from cord blood	blood
17	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:197714600-197743600	Weak transcription	Ovary	ovary
20	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
21	chr1:197715400-197741800	Weak transcription	Gastric	stomach
22	chr1:197715600-197738400	Weak transcription	Pancreas	Pancrea
23	chr1:197716800-197731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:197716800-197737000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:197717000-197730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:197717000-197737200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:197718400-197732000	Weak transcription	K562	blood
28	chr1:197718400-197740200	Weak transcription	NHDF-Ad	bronchial
29	chr1:197718600-197741800	Weak transcription	Osteobl	bone
30	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:197720000-197731200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:197720200-197730800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:197720200-197731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:197720200-197740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:197720400-197728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:197720400-197730400	Weak transcription	Primary T cells from cord blood	blood
37	chr1:197721200-197743000	Weak transcription	Fetal Kidney	kidney
38	chr1:197722600-197740800	Weak transcription	Fetal Lung	lung
39	chr1:197722800-197736800	Weak transcription	Liver	Liver
40	chr1:197723000-197730000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:197723400-197732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:197723800-197732000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:197724200-197728600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:197724200-197729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:197725400-197730800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:197725800-197730000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:197725800-197730400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197726800-197730400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:197727200-197730000	Genic enhancers	Dnd41	blood
50	chr1:197727400-197728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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