Variant report

Variant	rs10191684
Chromosome Location	chr2:55244982-55244983
allele	C/T
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	POLR2A	chr2:55244632-55245344	A549	lung:	n/a	n/a
2	CEBPB	chr2:55244888-55245457	A549	lung:	n/a	chr2:55245213-55245224
3	POLR2A	chr2:55244445-55245266	U87	brain:	n/a	n/a
4	POLR2A	chr2:55244445-55245260	U87	brain:	n/a	n/a
5	POLR2A	chr2:55244755-55245095	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:55244677-55245400	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:55244619-55245282	K562	blood:	n/a	n/a
8	POLR2A	chr2:55244928-55245071	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr2:55244385-55245194	U87	brain:	n/a	n/a
10	POLR2A	chr2:55244667-55245629	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:55244964-55245401	A549	lung:	n/a	chr2:55245213-55245224
12	POLR2A	chr2:55241938-55261416	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:55243678..55249957-chr2:55274888..55279397,9	MCF-7	breast:
2	chr2:55244120..55248820-chr2:55275882..55279343,5	K562	blood:
3	chr2:55243166..55246645-chr2:55249862..55254918,6	K562	blood:
4	chr2:55243006..55245333-chr2:55275948..55278441,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-433P	TF binding region
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10084445	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10170102	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10175952	0.86[AMR][1000 genomes]
rs10179491	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10180207	0.80[AFR][1000 genomes]
rs10181115	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10191748	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10197533	0.82[AMR][1000 genomes]
rs10198096	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10207701	0.86[AMR][1000 genomes]
rs11125554	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13385999	0.92[AMR][1000 genomes]
rs13387710	0.86[AMR][1000 genomes]
rs13394823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394824	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401937	0.88[AFR][1000 genomes]
rs17046567	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17046569	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34928331	0.88[AFR][1000 genomes]
rs3806572	0.84[AFR][1000 genomes]
rs60989108	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6725187	0.92[AMR][1000 genomes]
rs72912579	0.86[AMR][1000 genomes]
rs7584992	0.92[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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
2	chr2:55234800-55246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:55237600-55246000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:55237600-55247800	Weak transcription	Left Ventricle	heart
5	chr2:55237600-55249600	Weak transcription	Gastric	stomach
6	chr2:55237600-55250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:55237600-55258600	Weak transcription	Ovary	ovary
8	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
9	chr2:55238200-55245800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:55238400-55249200	Weak transcription	Pancreas	Pancrea
11	chr2:55238400-55249600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:55238400-55250800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:55238400-55251200	Weak transcription	Psoas Muscle	Psoas
14	chr2:55238400-55252200	Weak transcription	Fetal Thymus	thymus
15	chr2:55238400-55252400	Weak transcription	Thymus	Thymus
16	chr2:55238400-55253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:55239200-55247800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:55239400-55245000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:55240400-55249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:55240400-55249800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:55240600-55249000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:55240800-55249600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:55240800-55250200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:55241000-55249000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:55241000-55249000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:55241000-55249600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
28	chr2:55241200-55245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:55241200-55247400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:55241200-55247800	Weak transcription	Fetal Intestine Small	intestine
31	chr2:55241200-55249000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:55241200-55249200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:55241200-55249600	Weak transcription	Fetal Heart	heart
34	chr2:55241400-55246000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:55241400-55249200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:55241400-55253400	Weak transcription	Fetal Lung	lung
37	chr2:55241800-55245000	Enhancers	HUVEC	blood vessel
38	chr2:55241800-55247800	Weak transcription	Lung	lung
39	chr2:55242000-55246000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:55242000-55246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:55242000-55246400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:55242000-55252400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:55242200-55246400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:55242200-55249800	Weak transcription	Fetal Brain Male	brain
45	chr2:55242200-55253400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:55242400-55246000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:55242400-55253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:55242400-55258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:55242600-55245800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:55242600-55248600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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