Variant report

Variant	rs73936508
Chromosome Location	chr2:55195955-55195956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:55195799-55196261	K562	blood:	n/a	n/a
2	POLR2A	chr2:55194876-55196816	HL-60	blood:	n/a	n/a
3	POLR2A	chr2:55193058-55197604	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr2:55195328-55195986	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:55195644-55196063	A549	lung:	n/a	n/a
6	POLR2A	chr2:55195673-55197556	K562	blood:	n/a	n/a
7	POLR2A	chr2:55192057-55196307	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:55193400-55197464	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:55195625-55196014	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:55195858-55196091	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:55193200-55198888	A549	lung:	n/a	n/a
12	POLR2A	chr2:55190471-55199022	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:55193167-55197152	U87	brain:	n/a	n/a
14	POLR2A	chr2:55195083-55196179	GM19193	blood:	n/a	n/a
15	POLR2A	chr2:55195683-55196279	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:55194909-55196368	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr2:55194875-55196815	HCT-116	colon:	n/a	n/a
18	POLR2A	chr2:55190362-55199062	U87	brain:	n/a	n/a
19	POLR2A	chr2:55195567-55196178	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:55195837-55196227	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:55195782-55196408	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr2:55195398-55196224	K562	blood:	n/a	n/a
23	POLR2A	chr2:55195819-55196060	GM12891	blood:	n/a	n/a
24	POLR2A	chr2:55195641-55196106	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:55195607-55197627	H1-hESC	embryonic stem cell:	n/a	n/a
26	BHLHE40	chr2:55195633-55196013	K562	blood:	n/a	n/a
27	POLR2A	chr2:55194821-55197414	GM12891	blood:	n/a	n/a
28	POLR2A	chr2:55194819-55195966	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr2:55195043-55196265	K562	blood:	n/a	n/a
30	POLR2A	chr2:55193167-55197203	U87	brain:	n/a	n/a
31	POLR2A	chr2:55194328-55196339	HL-60	blood:	n/a	n/a
32	POLR2A	chr2:55195840-55196174	HepG2	liver:	n/a	n/a
33	PML	chr2:55195883-55196295	K562	blood:	n/a	n/a
34	POLR2A	chr2:55193277-55201440	K562	blood:	n/a	n/a
35	POLR2A	chr2:55195738-55196009	A549	lung:	n/a	n/a
36	POLR2A	chr2:55195745-55196201	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:55195604-55196317	GM12892	blood:	n/a	n/a
38	RCOR1	chr2:55195652-55195980	K562	blood:	n/a	n/a
39	POLR2A	chr2:55195057-55196274	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr2:55195429-55196279	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr2:55191336-55197109	HUVEC	blood vessel:	n/a	n/a
42	UBTF	chr2:55195720-55196088	K562	blood:	n/a	n/a
43	POLR2A	chr2:55194497-55197512	K562	blood:	n/a	n/a
44	FOSL2	chr2:55195108-55196306	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:55195490-55196231	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr2:55195653-55196296	Hela-S3	cervix:	n/a	n/a
47	MAZ	chr2:55195903-55196136	K562	blood:	n/a	n/a
48	POLR2A	chr2:55195615-55196231	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr2:55195647-55196307	HepG2	liver:	n/a	n/a
50	NFATC1	chr2:55195664-55196095	GM12878	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:

No data

Variant related genes	Relation type
EML6	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11884082	0.85[AMR][1000 genomes]
rs11886393	0.83[AMR][1000 genomes]
rs11892015	0.85[AMR][1000 genomes]
rs11895689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897363	0.83[AMR][1000 genomes]
rs11899197	0.85[AMR][1000 genomes]
rs11899295	0.85[AMR][1000 genomes]
rs15028	0.85[AMR][1000 genomes]
rs17046545	0.85[AMR][1000 genomes]
rs17046564	0.85[AMR][1000 genomes]
rs2864047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58156158	0.85[AMR][1000 genomes]
rs73936506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936512	0.85[AMR][1000 genomes]
rs73936517	0.85[AMR][1000 genomes]
rs73936518	0.85[AMR][1000 genomes]
rs73936821	0.85[AMR][1000 genomes]
rs73936824	0.85[AMR][1000 genomes]
rs957920	0.85[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	chr2:55180600-55196000	Weak transcription	NH-A	brain
3	chr2:55181600-55203400	Weak transcription	Ovary	ovary
4	chr2:55183200-55206800	Weak transcription	Stomach Mucosa	stomach
5	chr2:55183400-55196600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:55184800-55214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:55190000-55198400	Weak transcription	Colonic Mucosa	Colon
8	chr2:55190000-55203400	Weak transcription	Small Intestine	intestine
9	chr2:55190600-55198000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr2:55190800-55196600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:55191200-55198200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:55191200-55199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:55191800-55203600	Weak transcription	Fetal Lung	lung
14	chr2:55191800-55211600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:55192200-55198600	Strong transcription	Fetal Stomach	stomach
17	chr2:55192600-55198600	Strong transcription	Fetal Intestine Small	intestine
18	chr2:55193400-55196200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:55193400-55196200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:55193400-55196800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:55193400-55197400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:55193400-55199000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:55193400-55201800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:55193400-55214800	Strong transcription	HepG2	liver
25	chr2:55193600-55196400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:55193600-55196400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:55193600-55197000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:55193600-55197400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr2:55193600-55200800	Strong transcription	A549	lung
30	chr2:55193600-55201800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:55193600-55214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:55193800-55196800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:55193800-55197400	Enhancers	Psoas Muscle	Psoas
34	chr2:55193800-55198200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:55193800-55198600	Genic enhancers	Lung	lung
36	chr2:55193800-55202400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:55193800-55211800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:55194000-55198600	Strong transcription	Brain Germinal Matrix	brain
39	chr2:55194000-55199000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:55194000-55211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:55194200-55196600	Weak transcription	Placenta	Placenta
42	chr2:55194200-55196800	Weak transcription	Aorta	Aorta
43	chr2:55194200-55197000	Weak transcription	Hela-S3	cervix
44	chr2:55194200-55197200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:55194200-55197200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:55194200-55197200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:55194200-55197200	Weak transcription	K562	blood
48	chr2:55194200-55197400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:55194200-55198600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:55194200-55204400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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