Variant report

Variant	rs62250949
Chromosome Location	chr3:43556901-43556902
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	chr3:43556321..43558158-chr3:43566836..43569482,2	K562	blood:
2	chr3:43547061..43549159-chr3:43555367..43556910,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11926254	1.00[AFR][1000 genomes]
rs41289586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62250883	1.00[AFR][1000 genomes]
rs62250911	1.00[AFR][1000 genomes]
rs62250916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62250950	1.00[AFR][1000 genomes]
rs62250952	1.00[AFR][1000 genomes]
rs62252988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62253029	1.00[AFR][1000 genomes]
rs62253043	1.00[AFR][1000 genomes]

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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2763720	chr3:43551038-43575884	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:43539200-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:43539600-43558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:43540200-43559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:43540200-43564600	Weak transcription	NHEK	skin
8	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:43540600-43560800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:43540800-43559200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:43541600-43559000	Weak transcription	Adipose Nuclei	Adipose
12	chr3:43541800-43558600	Weak transcription	Aorta	Aorta
13	chr3:43542000-43559000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
15	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:43544200-43558200	Weak transcription	Lung	lung
17	chr3:43544200-43558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:43544400-43560200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:43545200-43559200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:43545200-43560200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:43546400-43561000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:43547200-43567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:43547400-43560800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
25	chr3:43548400-43559000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:43548400-43559000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:43548400-43559200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:43549000-43561200	Weak transcription	Right Ventricle	heart
29	chr3:43549200-43557400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:43551000-43562600	Weak transcription	HUVEC	blood vessel
31	chr3:43551000-43577800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:43551200-43560800	Weak transcription	Fetal Heart	heart
33	chr3:43552000-43564200	Weak transcription	Gastric	stomach
34	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:43553800-43560600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:43554000-43579000	Weak transcription	Fetal Brain Male	brain
38	chr3:43554600-43557200	Weak transcription	Spleen	Spleen
39	chr3:43554600-43561000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:43554600-43561000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:43554800-43557200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:43554800-43557800	Weak transcription	K562	blood
43	chr3:43554800-43560600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:43554800-43561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:43554800-43561200	Weak transcription	HSMM	muscle
46	chr3:43554800-43564400	Weak transcription	Osteobl	bone
47	chr3:43554800-43564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:43554800-43564600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:43554800-43565200	Weak transcription	NHDF-Ad	bronchial
50	chr3:43554800-43565400	Weak transcription	NHLF	lung

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