Variant report

Variant	rs1881748
Chromosome Location	chr19:44669689-44669690
allele	A/C
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	MAFF	chr19:44669616-44669795	K562	blood:	n/a	n/a
2	MXI1	chr19:44668849-44669833	HepG2	liver:	n/a	n/a
3	GABPA	chr19:44668542-44669692	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr19:44668847-44670037	H1-neurons	neurons:	n/a	n/a
5	REST	chr19:44668548-44669971	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr19:44668782-44669996	GM12892	blood:	n/a	n/a
7	PML	chr19:44668753-44669733	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44668682-44669821	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr19:44668777-44669830	GM12878	blood:	n/a	chr19:44668927-44668936 chr19:44669165-44669174 chr19:44668987-44668996 chr19:44669238-44669247
10	POLR2A	chr19:44668822-44669827	GM19099	blood:	n/a	n/a
11	YY1	chr19:44668641-44669717	SK-N-SH_RA	brain:	n/a	chr19:44669266-44669274 chr19:44669263-44669285 chr19:44669474-44669485 chr19:44669262-44669274
12	POLR2A	chr19:44668535-44669751	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr19:44668686-44669780	GM12878	blood:	n/a	n/a
14	MAX	chr19:44668868-44669907	K562	blood:	n/a	n/a
15	BHLHE40	chr19:44668707-44669743	K562	blood:	n/a	n/a
16	POLR2A	chr19:44669636-44669975	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr19:44668493-44670018	A549	lung:	n/a	n/a
18	POLR2A	chr19:44668672-44670204	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr19:44668711-44669730	GM12892	blood:	n/a	n/a
20	TBP	chr19:44668723-44669880	GM12878	blood:	n/a	n/a
21	GABPA	chr19:44668393-44669821	A549	lung:	n/a	n/a
22	POLR2A	chr19:44668588-44670162	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr19:44668678-44670037	K562	blood:	n/a	n/a
24	MTA3	chr19:44668939-44669694	GM12878	blood:	n/a	n/a
25	RCOR1	chr19:44668805-44669881	K562	blood:	n/a	n/a
26	STAT1	chr19:44668569-44670015	GM12878	blood:	n/a	chr19:44669198-44669206 chr19:44669316-44669336 chr19:44668919-44668933 chr19:44669192-44669212 chr19:44668916-44668936 chr19:44669319-44669333 chr19:44669195-44669209 chr19:44668922-44668930
27	SIX5	chr19:44668471-44670016	A549	lung:	n/a	chr19:44669128-44669137 chr19:44668991-44669000 chr19:44669049-44669058
28	MAX	chr19:44668601-44670058	A549	lung:	n/a	n/a
29	ELF1	chr19:44668648-44669690	SK-N-SH	brain:	n/a	chr19:44669166-44669175 chr19:44668985-44668996 chr19:44669164-44669177 chr19:44669165-44669176 chr19:44668985-44668996
30	BRCA1	chr19:44669394-44669757	GM12878	blood:	n/a	n/a
31	STAT3	chr19:44668821-44669836	GM12878	blood:	n/a	chr19:44669198-44669206 chr19:44669316-44669336 chr19:44668919-44668933 chr19:44669192-44669212 chr19:44668916-44668936 chr19:44669319-44669333 chr19:44669195-44669209 chr19:44668922-44668930
32	GTF2F1	chr19:44668667-44670003	Hela-S3	cervix:	n/a	n/a
33	REST	chr19:44668602-44669829	A549	lung:	n/a	n/a
34	RELA	chr19:44668665-44669802	GM12891	blood:	n/a	n/a
35	TBL1XR1	chr19:44668836-44669766	K562	blood:	n/a	n/a
36	MTA3	chr19:44668651-44669919	GM12878	blood:	n/a	n/a
37	SIN3A	chr19:44668919-44669890	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr19:44668779-44669768	SK-N-SH	brain:	n/a	chr19:44669266-44669274 chr19:44669263-44669285 chr19:44669474-44669485 chr19:44669262-44669274
39	JUN	chr19:44668258-44669877	K562	blood:	n/a	chr19:44668934-44668948
40	TBL1XR1	chr19:44669665-44669801	K562	blood:	n/a	n/a
41	TAF1	chr19:44668866-44669730	H1-neurons	neurons:	n/a	n/a
42	BHLHE40	chr19:44668903-44670159	GM12878	blood:	n/a	n/a
43	ELF1	chr19:44668596-44669739	HCT-116	colon:	n/a	chr19:44669166-44669175 chr19:44668985-44668996 chr19:44669164-44669177 chr19:44669165-44669176 chr19:44668985-44668996
44	POLR2A	chr19:44668606-44669775	HepG2	liver:	n/a	n/a
45	CHD1	chr19:44668739-44669749	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:44668624-44670004	PFSK-1	brain:	n/a	n/a
47	MAX	chr19:44668869-44669847	NB4	blood:	n/a	n/a
48	CREB1	chr19:44668738-44669736	GM12878	blood:	n/a	n/a
49	MAX	chr19:44668639-44669841	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr19:44668829-44669787	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44616225..44617902-chr19:44668355..44670566,2	MCF-7	breast:
2	chr19:44643597..44646401-chr19:44667704..44670290,3	K562	blood:
3	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
4	chr19:44668036..44670553-chr19:44709491..44711796,2	MCF-7	breast:
5	chr19:44668674..44671221-chr19:44672001..44674509,3	K562	blood:
6	chr19:44644162..44647190-chr19:44667490..44670508,3	MCF-7	breast:
7	chr19:44669130..44670714-chr19:45003024..45005915,2	MCF-7	breast:

Variant related genes	Relation type
ZNF226	TF binding region
ENSG00000256294	Chromatin interaction
ENSG00000263002	Chromatin interaction
ENSG00000167384	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000167380	Chromatin interaction
ENSG00000131115	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10153465	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10153499	0.94[ASN][1000 genomes]
rs10405281	0.88[ASN][1000 genomes]
rs10406980	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10408004	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409884	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409954	0.98[ASN][1000 genomes]
rs10410283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412910	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10415563	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10415664	0.88[ASN][1000 genomes]
rs10416230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416292	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422555	0.96[ASN][1000 genomes]
rs10422609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10424371	1.00[ASN][1000 genomes]
rs10425146	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425881	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426314	0.83[EUR][1000 genomes]
rs1106562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140	0.88[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11878679	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878720	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11879588	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879843	0.90[ASN][1000 genomes]
rs13346417	0.82[ASN][1000 genomes]
rs16959114	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978665	0.81[JPT][hapmap]
rs16978738	0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs16978794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2141524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141525	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422007	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3746322	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs3803932	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810137	0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802213	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802215	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803683	0.90[ASN][1000 genomes]
rs4803685	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4803686	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs4803688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4803692	0.85[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803693	1.00[EUR][1000 genomes]
rs55732275	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57418162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451052	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358390	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59576456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774711	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379253	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60747128	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509142	0.81[JPT][hapmap]
rs6509144	0.90[ASN][1000 genomes]
rs6509147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6509148	1.00[CHB][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248797	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250439	0.81[JPT][hapmap]
rs7254034	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254458	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7259777	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7260367	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260588	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs73564059	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73564095	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108504	1.00[ASN][1000 genomes]
rs8108908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111388	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs8111562	0.81[JPT][hapmap]
rs922063	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs922064	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304639	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44667600-44669800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:44667800-44669800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:44668000-44669800	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:44668400-44669800	Active TSS	Brain Hippocampus Middle	brain
5	chr19:44668400-44669800	Active TSS	Duodenum Mucosa	Duodenum
6	chr19:44668400-44669800	Active TSS	Right Atrium	heart
7	chr19:44668400-44669800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:44668400-44669800	Active TSS	K562	blood
9	chr19:44668400-44670000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:44668400-44670000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:44668400-44670000	Active TSS	Brain Cingulate Gyrus	brain
12	chr19:44668400-44670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:44668400-44670400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:44668400-44670600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44668400-44670800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44668600-44669800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:44668600-44669800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:44668600-44669800	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:44668600-44669800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr19:44668600-44669800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:44668600-44669800	Active TSS	Aorta	Aorta
22	chr19:44668600-44669800	Active TSS	Brain Anterior Caudate	brain
23	chr19:44668600-44669800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:44668600-44669800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr19:44668600-44669800	Active TSS	Placenta	Placenta
26	chr19:44668600-44669800	Active TSS	Fetal Thymus	thymus
27	chr19:44668600-44669800	Active TSS	Gastric	stomach
28	chr19:44668600-44669800	Active TSS	Pancreas	Pancrea
29	chr19:44668600-44669800	Active TSS	Small Intestine	intestine
30	chr19:44668600-44669800	Active TSS	Thymus	Thymus
31	chr19:44668600-44669800	Active TSS	HSMMtube	muscle
32	chr19:44668600-44669800	Active TSS	NHEK	skin
33	chr19:44668600-44670000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:44668600-44670000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr19:44668600-44670000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:44668600-44670000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44668600-44670000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:44668600-44670000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:44668600-44670000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:44668600-44670000	Active TSS	Colonic Mucosa	Colon
41	chr19:44668600-44670000	Active TSS	Esophagus	oesophagus
42	chr19:44668600-44670000	Active TSS	Fetal Brain Male	brain
43	chr19:44668600-44670000	Active TSS	Fetal Kidney	kidney
44	chr19:44668600-44670000	Active TSS	Fetal Stomach	stomach
45	chr19:44668600-44670000	Active TSS	Lung	lung
46	chr19:44668600-44670000	Active TSS	NH-A	brain
47	chr19:44668600-44670000	Active TSS	NHLF	lung
48	chr19:44668600-44670200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr19:44668600-44670200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:44668600-44670200	Active TSS	Fetal Muscle Trunk	muscle

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