Variant report

Variant	rs11874634
Chromosome Location	chr18:44492573-44492574
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	chr18:44491476..44494532-chr18:44496207..44498289,3	MCF-7	breast:
2	chr18:44492204..44495512-chr18:44495791..44498945,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs11872472	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11874218	1.00[CHB][hapmap]
rs11874267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875918	1.00[CHB][hapmap]
rs11876274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877429	1.00[CHB][hapmap]
rs11877650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11877721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877963	1.00[CHB][hapmap]
rs11878114	1.00[CHB][hapmap]
rs16949623	1.00[CHB][hapmap]
rs17472	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35539161	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3893054	1.00[CHB][hapmap]
rs4084161	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4341835	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4341836	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4640275	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55664322	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55710513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756567	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55779584	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064494	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56095591	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56164202	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217029	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56279708	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56303451	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56345132	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56352844	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7229231	1.00[CHB][hapmap]
rs7230266	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7234512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238432	0.80[YRI][hapmap]
rs7238877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7240843	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7242313	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7242768	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7243015	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244384	0.80[YRI][hapmap]
rs72905224	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905246	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905276	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72907105	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907132	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907142	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907199	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919280	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72919285	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.89[AMR][1000 genomes];0.86[EUR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised 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	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:44469800-44493800	Weak transcription	Lung	lung
3	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
4	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
5	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
6	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
7	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
13	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
18	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
19	chr18:44471000-44495800	Weak transcription	HSMM	muscle
20	chr18:44471200-44493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
23	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
24	chr18:44473800-44493400	Weak transcription	Fetal Heart	heart
25	chr18:44474400-44493000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:44474400-44493600	Weak transcription	HepG2	liver
27	chr18:44474800-44493000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr18:44475600-44494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:44482400-44495200	Weak transcription	Primary T cells from cord blood	blood
30	chr18:44483600-44495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:44484000-44493400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:44484000-44495400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr18:44484000-44495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr18:44486800-44493600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr18:44487000-44493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr18:44487000-44493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:44487200-44494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:44487400-44496000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr18:44487600-44493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:44487600-44495200	Weak transcription	Fetal Lung	lung
41	chr18:44487800-44493000	Weak transcription	Dnd41	blood
42	chr18:44487800-44493600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:44487800-44493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr18:44487800-44493800	Weak transcription	Psoas Muscle	Psoas
45	chr18:44488000-44495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:44488000-44495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:44488000-44495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:44488200-44494800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr18:44488400-44495200	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:44488600-44495200	Weak transcription	Primary hematopoietic stem cells	blood

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