Variant report

Variant	rs2850993
Chromosome Location	chr4:102125649-102125650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2659510	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2850988	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2850992	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:102107600-102126600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:102109200-102126200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:102113800-102126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:102113800-102127200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:102113800-102131800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:102117200-102125800	Weak transcription	Dnd41	blood
8	chr4:102117200-102126200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:102118000-102132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:102118200-102126800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:102118800-102126200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:102119600-102126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:102120000-102131400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:102120600-102126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:102121000-102126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:102121600-102127000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:102121800-102126600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:102121800-102128600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:102121800-102131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:102121800-102132600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:102122000-102127000	Weak transcription	HSMM	muscle
22	chr4:102122000-102132400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:102122600-102127000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:102122800-102126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:102122800-102126600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:102122800-102126800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:102123000-102126600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:102123000-102126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:102123000-102126600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:102123000-102126600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr4:102123000-102126800	Weak transcription	NH-A	brain
32	chr4:102123000-102127000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:102123000-102127000	Weak transcription	NHDF-Ad	bronchial
34	chr4:102123000-102129400	Weak transcription	Right Ventricle	heart
35	chr4:102123200-102125800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:102123200-102126600	Weak transcription	Osteobl	bone
37	chr4:102123200-102126800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:102123200-102127000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:102123200-102127000	Weak transcription	HMEC	breast
40	chr4:102123200-102131400	Weak transcription	Aorta	Aorta
41	chr4:102123200-102131600	Weak transcription	Small Intestine	intestine
42	chr4:102123200-102132200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:102123200-102132200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:102123200-102132200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:102123200-102132400	Weak transcription	NHEK	skin
46	chr4:102123200-102133400	Weak transcription	Psoas Muscle	Psoas
47	chr4:102123200-102133400	Weak transcription	Right Atrium	heart
48	chr4:102123400-102132800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:102124200-102126600	Weak transcription	Brain Anterior Caudate	brain
50	chr4:102124200-102132800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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