Variant report

Variant	rs13387710
Chromosome Location	chr2:55197070-55197071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55193058-55197604	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr2:55196822-55197256	HCT-116	colon:	n/a	n/a
3	POLR2A	chr2:55195673-55197556	K562	blood:	n/a	n/a
4	POLR2A	chr2:55193400-55197464	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:55196379-55197561	HL-60	blood:	n/a	n/a
6	ZMIZ1	chr2:55196962-55197405	K562	blood:	n/a	n/a
7	CCNT2	chr2:55196054-55197980	K562	blood:	n/a	n/a
8	POLR2A	chr2:55193200-55198888	A549	lung:	n/a	n/a
9	POLR2A	chr2:55196938-55197652	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:55190471-55199022	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr2:55193167-55197152	U87	brain:	n/a	n/a
12	POLR2A	chr2:55196395-55197269	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:55190362-55199062	U87	brain:	n/a	n/a
14	POLR2A	chr2:55197026-55197497	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr2:55197047-55197560	H1-neurons	neurons:	n/a	n/a
16	PML	chr2:55196942-55197714	K562	blood:	n/a	n/a
17	POLR2A	chr2:55195607-55197627	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:55196977-55197577	HL-60	blood:	n/a	n/a
19	POLR2A	chr2:55194821-55197414	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:55197036-55197179	ProgFib	skin:	n/a	n/a
21	POLR2A	chr2:55196658-55197510	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:55193167-55197203	U87	brain:	n/a	n/a
23	POLR2A	chr2:55193277-55201440	K562	blood:	n/a	n/a
24	POLR2A	chr2:55196333-55197514	K562	blood:	n/a	n/a
25	POLR2A	chr2:55191336-55197109	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr2:55194497-55197512	K562	blood:	n/a	n/a
27	POLR2A	chr2:55196996-55197144	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:55196518-55197561	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:55193180-55198666	IMR90	lung:	n/a	n/a
30	POLR2A	chr2:55197045-55197541	GM12891	blood:	n/a	n/a
31	POLR2A	chr2:55196966-55197427	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:55190362-55199105	U87	brain:	n/a	n/a
33	POLR2A	chr2:55196992-55197473	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55195869..55197384-chr2:55197903..55200472,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTN4-1	chr2:55196736-55198803	ENSG00000248316

No data

Variant related genes	Relation type
EML6	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10084445	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10170102	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10175952	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10179491	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10181115	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10191684	0.86[AMR][1000 genomes]
rs10191748	0.96[AMR][1000 genomes]
rs10191774	0.87[AMR][1000 genomes]
rs10197533	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10198096	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10206953	0.87[AMR][1000 genomes]
rs10207701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11125554	0.83[EUR][1000 genomes]
rs13385999	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13394823	0.86[AMR][1000 genomes]
rs13394824	0.86[AMR][1000 genomes]
rs13400353	0.90[AMR][1000 genomes]
rs13416852	0.81[AMR][1000 genomes]
rs17046567	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17046569	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4358163	0.89[EUR][1000 genomes]
rs60989108	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6545469	0.87[AMR][1000 genomes]
rs6545470	0.81[AMR][1000 genomes]
rs6715980	0.89[EUR][1000 genomes]
rs6725187	0.86[AMR][1000 genomes]
rs72912579	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7570298	0.91[EUR][1000 genomes]
rs7584992	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7592869	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55173200-55203400	Weak transcription	Gastric	stomach
2	chr2:55181600-55203400	Weak transcription	Ovary	ovary
3	chr2:55183200-55206800	Weak transcription	Stomach Mucosa	stomach
4	chr2:55184800-55214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55190000-55198400	Weak transcription	Colonic Mucosa	Colon
6	chr2:55190000-55203400	Weak transcription	Small Intestine	intestine
7	chr2:55190600-55198000	Genic enhancers	Fetal Muscle Leg	muscle
8	chr2:55191200-55198200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:55191200-55199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:55191800-55203600	Weak transcription	Fetal Lung	lung
11	chr2:55191800-55211600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:55192200-55198600	Strong transcription	Fetal Stomach	stomach
14	chr2:55192600-55198600	Strong transcription	Fetal Intestine Small	intestine
15	chr2:55193400-55197400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:55193400-55199000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:55193400-55201800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr2:55193400-55214800	Strong transcription	HepG2	liver
19	chr2:55193600-55197400	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr2:55193600-55200800	Strong transcription	A549	lung
21	chr2:55193600-55201800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:55193600-55214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:55193800-55197400	Enhancers	Psoas Muscle	Psoas
24	chr2:55193800-55198200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:55193800-55198600	Genic enhancers	Lung	lung
26	chr2:55193800-55202400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:55193800-55211800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:55194000-55198600	Strong transcription	Brain Germinal Matrix	brain
29	chr2:55194000-55199000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:55194000-55211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:55194200-55197200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:55194200-55197200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:55194200-55197200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:55194200-55197200	Weak transcription	K562	blood
35	chr2:55194200-55197400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:55194200-55198600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:55194200-55204400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:55194400-55197200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:55194400-55197200	Weak transcription	Liver	Liver
40	chr2:55194400-55197400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:55194400-55197600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:55194400-55198200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:55194400-55200200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:55194400-55200200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:55194400-55201400	Strong transcription	Primary B cells from cord blood	blood
46	chr2:55194600-55202200	Strong transcription	NHDF-Ad	bronchial
47	chr2:55194600-55204400	Strong transcription	Primary T cells from cord blood	blood
48	chr2:55194800-55197400	Strong transcription	Fetal Brain Female	brain
49	chr2:55194800-55201200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:55194800-55202400	Strong transcription	NHLF	lung

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