Variant report

Variant	rs989423
Chromosome Location	chr1:174782523-174782524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174780849..174783447-chr1:174946547..174949179,2	K562	blood:
2	chr1:174775809..174777668-chr1:174781118..174782806,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1046439	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs10753086	0.82[ASN][1000 genomes]
rs10912813	0.83[ASN][1000 genomes]
rs11590474	1.00[MKK][hapmap];0.84[TSI][hapmap]
rs11804941	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12060177	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1653626	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1653627	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1653632	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1754349	0.82[ASN][1000 genomes]
rs1754351	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1754355	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1793297	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1793300	0.90[ASN][1000 genomes]
rs1793308	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793309	0.94[ASN][1000 genomes]
rs1801791	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs1984418	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2187562	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2285210	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2981894	0.83[ASN][1000 genomes]
rs2987869	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2987874	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3018410	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3118980	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3133270	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs332765	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs332770	0.88[ASN][1000 genomes]
rs332771	0.88[ASN][1000 genomes]
rs332773	0.86[ASN][1000 genomes]
rs332789	0.89[ASN][1000 genomes]
rs332791	0.85[ASN][1000 genomes]
rs332795	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs332805	0.87[ASN][1000 genomes]
rs34819375	0.86[ASN][1000 genomes]
rs3753563	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4233195	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs444678	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs461910	0.89[ASN][1000 genomes]
rs4651238	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs6425305	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs6425309	0.81[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap]
rs6425310	0.91[CHB][hapmap];0.87[CHD][hapmap]
rs6664864	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6665216	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs6671824	0.83[ASN][1000 genomes]
rs6672148	0.83[ASN][1000 genomes]
rs6683602	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6689170	0.83[ASN][1000 genomes]
rs6696197	0.85[ASN][1000 genomes]
rs67967476	0.85[ASN][1000 genomes]
rs7538588	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7545910	0.82[ASN][1000 genomes]
rs7555533	0.84[ASN][1000 genomes]
rs9425784	0.83[ASN][1000 genomes]
rs9628627	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9700904	0.94[ASN][1000 genomes]
rs9804056	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1800291	chr1:174782523-174789611	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174769800-174787600	Weak transcription	Pancreas	Pancrea
2	chr1:174770000-174783000	Weak transcription	Ovary	ovary
3	chr1:174770000-174783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:174770000-174784200	Weak transcription	HSMM	muscle
5	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
6	chr1:174770200-174784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174770200-174788200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:174770400-174784200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:174770400-174784400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:174770800-174783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:174770800-174786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:174770800-174787600	Weak transcription	Fetal Stomach	stomach
13	chr1:174771600-174787400	Weak transcription	Fetal Brain Male	brain
14	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:174772600-174784200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:174772600-174784400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:174777200-174783000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:174777600-174786000	Weak transcription	Left Ventricle	heart
19	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:174778600-174783800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:174779400-174784400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:174779400-174786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:174779600-174784000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:174779600-174784200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:174780400-174783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:174780600-174783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:174780600-174783400	Weak transcription	GM12878-XiMat	blood
28	chr1:174780800-174783600	Weak transcription	NHEK	skin
29	chr1:174781200-174782600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:174781200-174782600	Strong transcription	Liver	Liver
31	chr1:174781200-174782600	Enhancers	HepG2	liver
32	chr1:174781600-174782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:174781600-174784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:174781800-174782600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:174781800-174783000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:174781800-174787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:174782200-174783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:174782200-174784200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:174782200-174784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:174782200-174784200	Weak transcription	Small Intestine	intestine
42	chr1:174782200-174784200	Weak transcription	NH-A	brain
43	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:174782400-174783600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:174782400-174784200	Weak transcription	HSMMtube	muscle
47	chr1:174782400-174784200	Weak transcription	NHLF	lung
48	chr1:174782400-174785400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:174782400-174786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:174782400-174786800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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