Variant report

Variant	rs561985901
Chromosome Location	chr2:73271198-73271199
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73263570..73266095-chr2:73269453..73271699,3	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv20443	chr2:73270284-73280427	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
5	chr2:73247400-73283800	Weak transcription	Dnd41	blood
6	chr2:73248200-73277200	Weak transcription	HMEC	breast
7	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
9	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
10	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:73249600-73277000	Weak transcription	NH-A	brain
12	chr2:73249600-73290000	Weak transcription	NHLF	lung
13	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
14	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
15	chr2:73250200-73284200	Weak transcription	Ovary	ovary
16	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
17	chr2:73250800-73271400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
20	chr2:73256800-73279400	Weak transcription	Osteobl	bone
21	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:73256800-73290000	Weak transcription	HSMM	muscle
23	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
24	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:73260800-73279200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:73261400-73282000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:73261400-73284200	Weak transcription	Gastric	stomach
30	chr2:73262400-73280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:73262800-73290600	Weak transcription	NHEK	skin
32	chr2:73263800-73277000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:73263800-73277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:73264000-73276600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:73264000-73276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:73264000-73280800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:73264200-73271200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:73264200-73271400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:73264400-73271400	Weak transcription	Brain Substantia Nigra	brain
41	chr2:73264400-73276800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:73264400-73277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:73264400-73277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:73264400-73277600	Weak transcription	Fetal Brain Female	brain
45	chr2:73264400-73280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:73264600-73277200	Weak transcription	Fetal Brain Male	brain
47	chr2:73264600-73284400	Weak transcription	Esophagus	oesophagus
48	chr2:73265600-73271200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:73265600-73276800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:73265600-73283800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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