Variant report

Variant	rs8111388
Chromosome Location	chr19:44645053-44645054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:44644854-44645186	IMR90	lung:	n/a	chr19:44645000-44645011 chr19:44644999-44645012 chr19:44644999-44645010
2	RCOR1	chr19:44644945-44646849	IMR90	lung:	n/a	n/a
3	MAZ	chr19:44644723-44646768	IMR90	lung:	n/a	chr19:44645968-44645978
4	CEBPB	chr19:44644859-44645157	HepG2	liver:	n/a	chr19:44645000-44645011 chr19:44644999-44645012 chr19:44644999-44645010
5	CEBPB	chr19:44644862-44645173	A549	lung:	n/a	chr19:44645000-44645011 chr19:44644999-44645012 chr19:44644999-44645010
6	CEBPB	chr19:44644924-44645071	Hela-S3	cervix:	n/a	chr19:44645000-44645011 chr19:44644999-44645012 chr19:44644999-44645010
7	GABPA	chr19:44645044-44646355	A549	lung:	n/a	n/a
8	SREBP1	chr19:44645007-44647085	GM12878	blood:	n/a	n/a
9	HCFC1	chr19:44645037-44646475	Hela-S3	cervix:	n/a	n/a
10	REST	chr19:44644980-44646552	H1-neurons	neurons:	n/a	chr19:44646421-44646430 chr19:44645551-44645564
11	IRF1	chr19:44645000-44645062	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:
2	chr19:44616455..44619109-chr19:44645010..44647245,2	K562	blood:
3	chr19:44596713..44600957-chr19:44644435..44647275,5	MCF-7	breast:
4	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
5	chr19:44643643..44645392-chr19:44686016..44687593,2	K562	blood:
6	chr19:44643597..44646401-chr19:44667704..44670290,3	K562	blood:
7	chr19:44616201..44619073-chr19:44644939..44647380,2	MCF-7	breast:
8	chr19:44644162..44647190-chr19:44667490..44670508,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF235-3	chr19:44644754-44645647	NONHSAT066670

Variant related genes	Relation type
ZNF234	TF binding region
ENSG00000267680	Chromatin interaction
ENSG00000167380	Chromatin interaction
ENSG00000267188	Chromatin interaction
ENSG00000167383	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000256294	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10153465	0.86[ASN][1000 genomes]
rs10153499	0.84[ASN][1000 genomes]
rs10401758	1.00[CEU][hapmap]
rs10405281	0.95[EUR][1000 genomes]
rs10406980	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.95[EUR][1000 genomes]
rs10408004	0.90[ASN][1000 genomes]
rs10409643	1.00[CEU][hapmap]
rs10409884	0.82[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10409954	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10410283	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10410532	1.00[CEU][hapmap]
rs10415196	1.00[CEU][hapmap]
rs10415563	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10415664	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10416230	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10416292	0.86[ASN][1000 genomes]
rs10416493	1.00[CEU][hapmap]
rs10417178	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10418460	1.00[CEU][hapmap]
rs10420465	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10422555	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422609	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10424371	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10425881	0.90[ASN][1000 genomes]
rs1106562	0.85[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11878679	0.90[ASN][1000 genomes]
rs11878720	0.90[ASN][1000 genomes]
rs11879588	0.84[ASN][1000 genomes]
rs11879843	0.80[ASN][1000 genomes]
rs13346417	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1584	1.00[CEU][hapmap]
rs16959114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978665	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs16978738	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs16978794	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978836	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs16978910	1.00[CEU][hapmap]
rs16978921	1.00[CEU][hapmap]
rs1881748	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2141524	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2141525	0.88[ASN][1000 genomes]
rs2178342	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2232803	1.00[CEU][hapmap]
rs28422007	0.82[ASN][1000 genomes]
rs28521615	0.85[ASN][1000 genomes]
rs3746322	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3803932	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs4802212	0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4802213	0.90[ASN][1000 genomes]
rs4802215	0.80[ASN][1000 genomes]
rs4803683	0.82[CHB][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803685	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803686	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803688	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55732275	0.90[ASN][1000 genomes]
rs57418162	0.90[ASN][1000 genomes]
rs57451052	0.90[ASN][1000 genomes]
rs58358390	0.90[ASN][1000 genomes]
rs59576456	0.90[ASN][1000 genomes]
rs59774711	0.84[ASN][1000 genomes]
rs60379253	0.90[ASN][1000 genomes]
rs60747128	0.90[ASN][1000 genomes]
rs6509142	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs6509144	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6509148	0.85[CHB][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs7248797	0.90[ASN][1000 genomes]
rs7249992	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7250439	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7253796	1.00[CEU][hapmap]
rs7254034	0.90[ASN][1000 genomes]
rs7254458	0.90[JPT][hapmap]
rs7257833	1.00[CEU][hapmap]
rs7259777	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7260367	0.85[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs7260588	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs73564059	0.90[ASN][1000 genomes]
rs73564095	0.90[ASN][1000 genomes]
rs8106828	0.85[ASN][1000 genomes]
rs8107252	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs8108504	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8108908	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs8111562	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs922063	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.95[EUR][1000 genomes]
rs922064	0.90[JPT][hapmap]
rs9304639	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44636000-44645200	Weak transcription	Fetal Thymus	thymus
2	chr19:44636800-44645200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44644200-44646600	Active TSS	Colon Smooth Muscle	Colon
4	chr19:44644600-44646200	Active TSS	Right Ventricle	heart
5	chr19:44644800-44645200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:44644800-44645200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:44644800-44645200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:44644800-44645200	Flanking Active TSS	Fetal Brain Female	brain
9	chr19:44644800-44645200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr19:44644800-44645200	Flanking Active TSS	A549	lung
11	chr19:44644800-44645200	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:44644800-44645400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:44644800-44645400	Active TSS	Primary B cells from cord blood	blood
14	chr19:44644800-44645400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:44644800-44645400	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr19:44644800-44645400	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr19:44644800-44645600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:44644800-44645600	Flanking Active TSS	Liver	Liver
19	chr19:44644800-44645600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:44644800-44645600	Flanking Active TSS	Dnd41	blood
21	chr19:44644800-44646200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:44644800-44646400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:44644800-44646400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr19:44644800-44646400	Active TSS	GM12878-XiMat	blood
25	chr19:44644800-44646600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:44644800-44646600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:44644800-44646600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:44644800-44646600	Active TSS	Psoas Muscle	Psoas
29	chr19:44644800-44646800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:44644800-44646800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr19:44644800-44646800	Active TSS	Fetal Intestine Small	intestine
32	chr19:44644800-44647000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:44644800-44647000	Active TSS	HSMMtube	muscle
34	chr19:44644800-44647400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:44645000-44645200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:44645000-44645200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:44645000-44645200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:44645000-44645200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:44645000-44645200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:44645000-44645200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:44645000-44645200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:44645000-44645200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr19:44645000-44645200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr19:44645000-44645200	Enhancers	Primary B cells from peripheral blood	blood
45	chr19:44645000-44645200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:44645000-44645200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:44645000-44645200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:44645000-44645200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:44645000-44645200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:44645000-44645200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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