Variant report

Variant	rs7628866
Chromosome Location	chr3:101441900-101441901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101430835..101432466-chr3:101441587..101443315,2	K562	blood:
2	chr3:101402329..101408159-chr3:101436960..101445251,11	K562	blood:

Variant related genes	Relation type
ENSG00000114391	Chromatin interaction
ENSG00000244119	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1031710	0.84[ASN][1000 genomes]
rs11706986	0.84[ASN][1000 genomes]
rs11714278	0.81[ASN][1000 genomes]
rs11717046	0.84[ASN][1000 genomes]
rs11720745	0.86[ASN][1000 genomes]
rs11914318	0.84[ASN][1000 genomes]
rs11919389	0.80[ASN][1000 genomes]
rs13059470	0.80[ASN][1000 genomes]
rs13066768	0.82[ASN][1000 genomes]
rs13077925	0.82[ASN][1000 genomes]
rs13099674	0.82[ASN][1000 genomes]
rs1963961	0.84[ASN][1000 genomes]
rs1963962	0.82[ASN][1000 genomes]
rs2318090	0.82[ASN][1000 genomes]
rs34181125	0.82[ASN][1000 genomes]
rs34376498	0.82[ASN][1000 genomes]
rs35117343	0.84[ASN][1000 genomes]
rs35850993	0.82[ASN][1000 genomes]
rs36002990	0.83[ASN][1000 genomes]
rs62284198	0.82[ASN][1000 genomes]
rs62284199	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3341424	chr3:101441137-101443460	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv3423040	chr3:101441462-101443110	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101438200-101442000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:101439200-101442000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:101439200-101442000	Enhancers	Fetal Thymus	thymus
4	chr3:101439400-101442000	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:101439400-101442800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:101440000-101443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:101440000-101443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:101440400-101442800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:101440400-101443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:101440600-101442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:101440600-101442800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:101440600-101442800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:101440600-101443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:101440600-101443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:101440600-101443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:101440600-101443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:101440600-101443000	Weak transcription	HSMMtube	muscle
18	chr3:101440800-101442000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:101440800-101442000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:101440800-101442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:101440800-101442600	Weak transcription	K562	blood
22	chr3:101440800-101442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:101440800-101443000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:101440800-101443000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:101440800-101443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:101441000-101442800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:101441000-101442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:101441000-101442800	Weak transcription	Psoas Muscle	Psoas
29	chr3:101441400-101442600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:101441400-101442600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:101441400-101443000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:101441600-101442000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:101441600-101442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:101441600-101442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:101441600-101442600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:101441600-101442800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:101441600-101442800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:101441600-101442800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:101441600-101442800	Weak transcription	HMEC	breast
40	chr3:101441600-101442800	Weak transcription	NHEK	skin
41	chr3:101441600-101443000	Weak transcription	HSMM	muscle
42	chr3:101441600-101443200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:101441800-101442000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr3:101441800-101442000	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:101441800-101442000	Enhancers	Thymus	Thymus
46	chr3:101441800-101442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:101441800-101442800	Enhancers	Primary B cells from cord blood	blood
48	chr3:101441800-101442800	Weak transcription	Primary T cells from cord blood	blood
49	chr3:101441800-101442800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:101441800-101442800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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