Variant report

Variant	rs12981131
Chromosome Location	chr19:39218694-39218695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:39218499-39219002	PANC-1	pancreas:	n/a	n/a
2	ZNF263	chr19:39218647-39219470	HEK293-T-REx	kidney:	n/a	n/a
3	TCF12	chr19:39218607-39219388	A549	lung:	n/a	n/a
4	POLR2A	chr19:39216954-39218717	K562	blood:	n/a	n/a
5	POLR2A	chr19:39217852-39218980	U87	brain:	n/a	n/a
6	POLR2A	chr19:39217344-39218937	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:39206681-39226302	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:39216964-39218967	A549	lung:	n/a	n/a
9	POLR2A	chr19:39218349-39218806	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:39218591-39218740	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:39218319-39220171	K562	blood:	n/a	n/a
12	POLR2A	chr19:39218235-39219107	HL-60	blood:	n/a	n/a
13	POLR2A	chr19:39218415-39218790	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:39218210-39219299	HepG2	liver:	n/a	n/a
15	JUN	chr19:39218453-39219551	K562	blood:	n/a	n/a
16	POLR2A	chr19:39218372-39219238	A549	lung:	n/a	n/a
17	POLR2A	chr19:39206712-39220782	PANC-1	pancreas:	n/a	n/a
18	NR2F2	chr19:39218691-39219106	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39218553..39228703-chr19:39324875..39331730,17	MCF-7	breast:
2	chr19:39217331..39220252-chr19:39336372..39338597,2	K562	blood:
3	chr19:39216544..39219007-chr19:39328306..39331285,2	MCF-7	breast:
4	chr19:39201322..39204125-chr19:39215978..39220088,5	K562	blood:
5	chr19:39217938..39222423-chr19:39330106..39333750,7	K562	blood:
6	chr19:39212206..39230741-chr19:39336504..39344817,33	MCF-7	breast:
7	chr19:39138000..39140768-chr19:39215687..39223350,9	MCF-7	breast:
8	chr19:39218316..39221729-chr19:39388696..39391433,3	K562	blood:

No data

Variant related genes	Relation type
ACTN4	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1105759	0.89[ASN][1000 genomes]
rs1106372	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1136956	0.97[ASN][1000 genomes]
rs12971309	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972987	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972997	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12974733	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975079	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975256	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12975953	0.87[AMR][1000 genomes]
rs12976598	0.91[AMR][1000 genomes]
rs12977238	0.82[ASN][1000 genomes]
rs12978273	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12978715	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978914	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12979947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12981984	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12983010	0.92[EUR][1000 genomes]
rs12983550	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12984794	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985030	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12985558	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985871	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12986032	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12986121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12986337	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589359	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001856	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2086148	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279145	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279146	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287728	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34026184	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34054765	0.91[AMR][1000 genomes]
rs34082501	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34083318	0.82[ASN][1000 genomes]
rs34105297	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34126343	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34134906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34305426	0.91[AMR][1000 genomes]
rs34332511	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34368672	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34525537	0.83[AMR][1000 genomes]
rs34558140	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34563817	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592527	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34695688	0.86[EUR][1000 genomes]
rs34703567	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34717167	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843929	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34862518	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34899634	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34911882	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35007285	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35074956	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35096737	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35134120	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35193699	0.82[ASN][1000 genomes]
rs35281901	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35403788	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35436155	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35576862	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35640008	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35666464	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35685980	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35691365	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35716073	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35729716	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35807146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35855940	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35856174	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35941349	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3786840	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45599933	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56817884	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56946356	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57230275	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60454376	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61121905	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62119101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119102	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119103	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119105	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62119109	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62119115	0.97[ASN][1000 genomes]
rs62119116	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120068	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62120074	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62121811	0.82[ASN][1000 genomes]
rs62121819	0.87[EUR][1000 genomes]
rs62121821	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62121823	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62121827	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62121829	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71356822	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246368	0.82[ASN][1000 genomes]
rs7248577	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260070	0.82[ASN][1000 genomes]
rs8103530	0.87[EUR][1000 genomes]
rs8104815	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105055	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105069	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105080	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105216	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105550	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899199	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899200	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv911669	chr19:39196745-39231548	Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12981131	EIF3K	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:39190200-39222600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:39190400-39222400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:39190400-39222600	Strong transcription	Dnd41	blood
8	chr19:39190600-39219600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr19:39190600-39222800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:39190800-39220400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:39190800-39222600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr19:39190800-39222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:39190800-39222800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr19:39190800-39223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:39190800-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:39191000-39222400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:39191000-39222600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr19:39191400-39218800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:39192400-39221200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:39199000-39220400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr19:39202800-39221400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr19:39204200-39223400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr19:39205000-39221000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:39206800-39220000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:39206800-39220000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:39207000-39219400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:39207000-39220200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:39207000-39222400	Strong transcription	Fetal Brain Female	brain
29	chr19:39210200-39222600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:39210400-39223400	Strong transcription	NHLF	lung
31	chr19:39210400-39223400	Strong transcription	Osteobl	bone
32	chr19:39210600-39219000	Strong transcription	Rectal Smooth Muscle	rectum
33	chr19:39210600-39222000	Strong transcription	Small Intestine	intestine
34	chr19:39210600-39222800	Genic enhancers	Spleen	Spleen
35	chr19:39210800-39219200	Strong transcription	NHEK	skin
36	chr19:39210800-39220200	Strong transcription	Thymus	Thymus
37	chr19:39211000-39218800	Strong transcription	Pancreatic Islets	Pancreatic Islet
38	chr19:39211000-39220800	Strong transcription	Colon Smooth Muscle	Colon
39	chr19:39211200-39219800	Strong transcription	Fetal Lung	lung
40	chr19:39211200-39220000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:39211200-39221400	Strong transcription	Esophagus	oesophagus
42	chr19:39211200-39222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:39211200-39224000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:39211600-39219000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:39211600-39219400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:39211600-39223000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr19:39212000-39218800	Strong transcription	Primary B cells from cord blood	blood
48	chr19:39212600-39222800	Strong transcription	Aorta	Aorta
49	chr19:39213000-39221800	Strong transcription	HMEC	breast
50	chr19:39213000-39223400	Strong transcription	Brain Germinal Matrix	brain

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