Variant report

Variant	rs4130178
Chromosome Location	chr18:9174721-9174722
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9173327..9175448-chr18:9180789..9183492,2	K562	blood:
2	chr18:9135268..9138206-chr18:9174153..9176625,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10451358	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081462	0.83[AFR][1000 genomes]
rs11081465	0.91[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081466	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11081467	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1156044	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs11660603	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12605173	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12954031	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12958093	0.81[ASN][1000 genomes]
rs12966956	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12970249	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1443596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1785560	0.91[CEU][hapmap]
rs2028656	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34452937	0.81[ASN][1000 genomes]
rs4078337	0.83[CHB][hapmap]
rs4131992	0.82[CHB][hapmap]
rs4148965	1.00[JPT][hapmap]
rs4318275	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592725	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4797356	0.82[CHB][hapmap]
rs4797359	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798771	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs4798776	0.95[CHB][hapmap]
rs4798782	0.82[ASN][1000 genomes]
rs4798783	0.99[ASN][1000 genomes]
rs4798785	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4798789	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4798790	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6506644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506646	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6506648	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7228910	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7229883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7235514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7240452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7505341	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7505670	0.81[AMR][1000 genomes]
rs7505814	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7506291	0.82[CHB][hapmap]
rs8083078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8084491	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084822	0.91[CEU][hapmap]
rs8089143	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8092135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8092613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8092878	0.91[CEU][hapmap]
rs8094556	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs874250	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs906807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9646498	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9652952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs977581	0.83[CHB][hapmap]
rs9944905	0.81[ASN][1000 genomes]
rs9945360	0.82[CHB][hapmap]
rs9946838	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9948560	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs9959998	0.81[ASN][1000 genomes]
rs998171	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9153600-9182400	Weak transcription	Liver	Liver
3	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:9157400-9182400	Weak transcription	HepG2	liver
5	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
6	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9165600-9183000	Weak transcription	Primary T cells from cord blood	blood
8	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:9168400-9185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:9170200-9181400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:9170400-9175400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:9171400-9175000	Enhancers	Primary B cells from peripheral blood	blood
13	chr18:9171400-9175400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:9171400-9175600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr18:9171400-9176600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr18:9171600-9175000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:9171600-9177800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr18:9171600-9180800	Weak transcription	NHDF-Ad	bronchial
19	chr18:9171800-9174800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr18:9171800-9175200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:9171800-9177200	Weak transcription	HUVEC	blood vessel
22	chr18:9172000-9182200	Weak transcription	Fetal Lung	lung
23	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
24	chr18:9172200-9185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:9172600-9174800	Enhancers	Brain Substantia Nigra	brain
27	chr18:9172600-9175400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr18:9172600-9182200	Weak transcription	Dnd41	blood
29	chr18:9173000-9208400	Weak transcription	NHLF	lung
30	chr18:9173200-9174800	Enhancers	Lung	lung
31	chr18:9173200-9182000	Weak transcription	Fetal Intestine Large	intestine
32	chr18:9173400-9174800	Enhancers	Right Atrium	heart
33	chr18:9173400-9174800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr18:9173600-9175200	Enhancers	Psoas Muscle	Psoas
35	chr18:9173600-9176800	Enhancers	Left Ventricle	heart
36	chr18:9173800-9174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:9173800-9174800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:9173800-9175000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:9174000-9174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:9174000-9174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:9174000-9174800	Enhancers	Brain Anterior Caudate	brain
42	chr18:9174000-9174800	Enhancers	Brain Cingulate Gyrus	brain
43	chr18:9174000-9174800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:9174000-9174800	Enhancers	Colon Smooth Muscle	Colon
45	chr18:9174000-9174800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr18:9174000-9174800	Enhancers	Esophagus	oesophagus
47	chr18:9174000-9174800	Enhancers	Gastric	stomach
48	chr18:9174000-9174800	Enhancers	Pancreas	Pancrea
49	chr18:9174000-9174800	Enhancers	Right Ventricle	heart
50	chr18:9174000-9174800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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