Variant report

Variant	rs55633363
Chromosome Location	chr2:99308148-99308149
allele	C/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	FOXA1	chr2:99307770-99308188	HepG2	liver:	n/a	n/a
2	FOS	chr2:99307841-99308174	MCF10A-Er-Src	breast:	n/a	chr2:99307983-99307994
3	JUND	chr2:99307889-99308166	HepG2	liver:	n/a	chr2:99307983-99307994
4	JUN	chr2:99307794-99308176	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr2:99307806-99308221	HUVEC	blood vessel:	n/a	chr2:99307983-99307994

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99307361..99309748-chr2:99317489..99320461,2	MCF-7	breast:

Variant related genes	Relation type
YWHAQP5	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10165386	0.90[EUR][1000 genomes]
rs10172913	0.90[ASN][1000 genomes]
rs10199926	0.87[EUR][1000 genomes]
rs10207287	0.84[EUR][1000 genomes]
rs10496329	0.83[ASN][1000 genomes]
rs12464653	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12467276	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12468086	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12469616	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17448085	0.83[EUR][1000 genomes]
rs17448190	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17448211	0.83[EUR][1000 genomes]
rs17448420	0.86[EUR][1000 genomes]
rs17514013	0.83[EUR][1000 genomes]
rs2309434	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2871235	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3769688	0.82[EUR][1000 genomes]
rs3769689	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55634708	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55646762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55730719	0.85[EUR][1000 genomes]
rs55859362	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55939630	0.86[EUR][1000 genomes]
rs56027617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070038	0.86[EUR][1000 genomes]
rs56163086	0.85[EUR][1000 genomes]
rs56305624	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56354279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363239	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56371690	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56375699	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56945529	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60889948	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62157995	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62157997	0.83[EUR][1000 genomes]
rs62157999	0.82[EUR][1000 genomes]
rs62158000	0.82[EUR][1000 genomes]
rs62158001	0.82[EUR][1000 genomes]
rs62158002	0.86[EUR][1000 genomes]
rs62158008	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158009	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62158010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158012	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62158015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158020	0.90[ASN][1000 genomes]
rs62158022	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6742636	0.86[EUR][1000 genomes]
rs6742760	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72825754	0.82[EUR][1000 genomes]
rs882164	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
4	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:99294400-99315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:99294400-99318600	Weak transcription	Spleen	Spleen
11	chr2:99294600-99312600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:99294600-99314200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:99295200-99312600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:99295600-99310000	Weak transcription	Fetal Thymus	thymus
16	chr2:99295600-99310400	Weak transcription	Dnd41	blood
17	chr2:99300000-99315600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:99301600-99315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:99301800-99310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:99302400-99318400	Weak transcription	Ovary	ovary
21	chr2:99302600-99308600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:99302600-99313000	Weak transcription	Right Ventricle	heart
23	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:99303800-99311800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:99304000-99318800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:99304800-99309000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:99305000-99316800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:99306400-99308200	Genic enhancers	Primary T cells from cord blood	blood
29	chr2:99306400-99308400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:99306400-99308400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:99306400-99308800	Enhancers	Pancreas	Pancrea
32	chr2:99306600-99308200	Enhancers	Brain Substantia Nigra	brain
33	chr2:99306600-99308400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:99306600-99308400	Enhancers	Left Ventricle	heart
35	chr2:99306600-99308400	Enhancers	Lung	lung
36	chr2:99306600-99308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:99306800-99308200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:99306800-99308400	Enhancers	Brain Anterior Caudate	brain
39	chr2:99306800-99308400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:99307000-99309400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:99307000-99315600	Weak transcription	Colonic Mucosa	Colon
42	chr2:99307200-99311400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:99307600-99308200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:99307600-99308400	Enhancers	Brain Angular Gyrus	brain
45	chr2:99307600-99309000	Weak transcription	Placenta	Placenta
46	chr2:99307600-99310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:99307600-99310600	Enhancers	HUVEC	blood vessel
48	chr2:99307800-99309000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:99308000-99308400	Genic enhancers	HepG2	liver
50	chr2:99308000-99311800	Weak transcription	Gastric	stomach

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