Variant report

Variant	rs62250946
Chromosome Location	chr3:43543023-43543024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43542244..43543912-chr3:43731616..43733792,2	K562	blood:
2	chr3:43542244..43544416-chr3:43731279..43733792,3	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17075812	0.86[AFR][1000 genomes]
rs17075840	0.93[AFR][1000 genomes]
rs2068969	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43533200-43544800	Weak transcription	K562	blood
6	chr3:43538400-43545200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:43539000-43545400	Enhancers	HUVEC	blood vessel
8	chr3:43539200-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:43539600-43558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:43539800-43543800	Weak transcription	NH-A	brain
11	chr3:43539800-43544400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:43539800-43544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:43539800-43544800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:43539800-43545200	Enhancers	Primary T cells from cord blood	blood
15	chr3:43539800-43546400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:43539800-43553800	Weak transcription	HSMMtube	muscle
17	chr3:43540000-43544800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:43540000-43546200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:43540000-43546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:43540000-43548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:43540000-43554200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:43540000-43554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:43540000-43556600	Weak transcription	Fetal Intestine Small	intestine
24	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:43540200-43544000	Weak transcription	HSMM	muscle
26	chr3:43540200-43544600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:43540200-43545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:43540200-43550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:43540200-43554000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:43540200-43559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:43540200-43564600	Weak transcription	NHEK	skin
32	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:43540400-43545000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:43540400-43545000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:43540400-43547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:43540600-43543800	Weak transcription	Lung	lung
37	chr3:43540600-43544800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:43540600-43560800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:43540800-43543200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:43540800-43554200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:43540800-43559200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:43541200-43543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:43541200-43548600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:43541600-43543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:43541600-43543800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:43541600-43544200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:43541600-43559000	Weak transcription	Adipose Nuclei	Adipose
48	chr3:43541800-43543800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:43541800-43558600	Weak transcription	Aorta	Aorta
50	chr3:43542000-43543200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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