Variant report

Variant	rs2850987
Chromosome Location	chr4:102107856-102107857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1021965	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1157038	0.90[CEU][hapmap]
rs1354785	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1395475	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1395476	0.90[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1506799	0.88[ASN][1000 genomes]
rs1506800	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1506802	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1506803	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1506804	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1543856	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17030851	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2048072	1.00[YRI][hapmap]
rs2135609	0.90[CEU][hapmap]
rs2135610	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2135612	0.89[CEU][hapmap]
rs2135614	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2174683	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2659503	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2659504	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2659505	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2659506	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659508	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2659509	0.81[CEU][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659511	0.91[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659512	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659513	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659522	0.89[CEU][hapmap]
rs2659525	0.90[CEU][hapmap]
rs2659530	0.90[CEU][hapmap]
rs2659531	0.89[CEU][hapmap]
rs2659532	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659533	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659534	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659537	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659538	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659539	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659540	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659541	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659542	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2850347	0.80[CEU][hapmap]
rs2850365	0.80[CEU][hapmap]
rs2850951	0.80[CEU][hapmap]
rs2850980	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2850981	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2850982	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2850985	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850990	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2850991	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850994	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850995	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2850998	0.90[CEU][hapmap]
rs2851003	0.90[CEU][hapmap]
rs3804366	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4478191	0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs58879959	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73833252	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs931871	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs970071	0.90[CEU][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:102090800-102112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:102090800-102114400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:102094400-102108600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:102096200-102112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:102096600-102112000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:102096600-102112000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:102096600-102112000	Weak transcription	Right Ventricle	heart
9	chr4:102096800-102108000	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:102097400-102112200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:102097800-102108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:102097800-102112200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:102097800-102112200	Weak transcription	Left Ventricle	heart
14	chr4:102097800-102112600	Weak transcription	Pancreas	Pancrea
15	chr4:102098600-102109800	Weak transcription	HepG2	liver
16	chr4:102098600-102118600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:102101800-102108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:102102000-102109800	Weak transcription	Esophagus	oesophagus
19	chr4:102102000-102112200	Weak transcription	Psoas Muscle	Psoas
20	chr4:102102000-102112800	Weak transcription	Right Atrium	heart
21	chr4:102102200-102110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:102102200-102112200	Weak transcription	Aorta	Aorta
23	chr4:102102200-102116400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:102104000-102112200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:102104200-102112200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:102104200-102112800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:102104200-102116200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:102104400-102112600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:102104400-102119400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:102104400-102119600	Weak transcription	Primary T cells from cord blood	blood
31	chr4:102104400-102119600	Weak transcription	Ovary	ovary
32	chr4:102104600-102108000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:102104600-102112200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:102104600-102112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:102104600-102114000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:102104600-102116400	Weak transcription	Dnd41	blood
37	chr4:102104800-102109000	Enhancers	A549	lung
38	chr4:102105400-102108200	Weak transcription	Stomach Mucosa	stomach
39	chr4:102105400-102108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:102105400-102109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:102105400-102112200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:102105400-102113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:102105400-102117800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:102105600-102109000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:102105600-102112600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:102105600-102112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:102106200-102108000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:102106200-102108600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:102106200-102109000	Weak transcription	NHEK	skin

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