Variant report

Variant	rs2164530
Chromosome Location	chr4:148851196-148851197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10049932	0.81[MEX][hapmap]
rs10519921	0.81[AMR][1000 genomes]
rs11934409	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11937178	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11939997	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11941546	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11942547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11946732	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs13434578	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13435747	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17024137	0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs17024143	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17614013	1.00[TSI][hapmap]
rs187006	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2118033	0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2118035	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2164531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358180	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2358181	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2635256	0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2635266	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2635267	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2635268	0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4027114	0.81[AMR][1000 genomes]
rs4027115	0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337713	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55752555	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67913037	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72617450	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72959726	1.00[EUR][1000 genomes]
rs7655265	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7666206	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7669783	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7672161	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7685779	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975371	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs975372	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797400-148879600	Weak transcription	Gastric	stomach
5	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
6	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
7	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
9	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
11	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
12	chr4:148827400-148861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148829400-148864200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:148832200-148854400	Weak transcription	NHEK	skin
15	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
16	chr4:148834800-148861400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:148835600-148854400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:148836400-148861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:148836600-148867000	Weak transcription	HMEC	breast
22	chr4:148837800-148854400	Weak transcription	Left Ventricle	heart
23	chr4:148838400-148858400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:148838800-148854400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:148840200-148853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:148843400-148854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:148843400-148854400	Weak transcription	HSMMtube	muscle
28	chr4:148846800-148853600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:148847000-148854800	Weak transcription	Fetal Kidney	kidney
30	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:148849000-148852000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:148849000-148852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:148849000-148854400	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:148849000-148854400	Weak transcription	Lung	lung
35	chr4:148849000-148861200	Weak transcription	Aorta	Aorta
36	chr4:148849200-148852600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:148849200-148854400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:148849200-148854400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:148849200-148854600	Weak transcription	Ovary	ovary
40	chr4:148849200-148875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:148849400-148854200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:148849600-148852200	Weak transcription	NH-A	brain
43	chr4:148849600-148854400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:148849600-148854400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:148849600-148854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:148849600-148863800	Weak transcription	NHLF	lung
47	chr4:148849800-148863800	Weak transcription	GM12878-XiMat	blood
48	chr4:148849800-148863800	Weak transcription	Osteobl	bone
49	chr4:148850000-148854600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:148850000-148863600	Weak transcription	Muscle Satellite Cultured Cells	--

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