Variant report

Variant	rs59238093
Chromosome Location	chr15:79224509-79224510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:79222906-79226130	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:79210927-79227564	K562	blood:	n/a	n/a
3	POLR2A	chr15:79222974-79226540	GM18526	blood:	n/a	n/a
4	POLR2A	chr15:79222919-79226313	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:79222915-79225729	K562	blood:	n/a	n/a
6	POLR2A	chr15:79217306-79227452	GM12892	blood:	n/a	n/a
7	POLR2A	chr15:79223046-79224840	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:79222900-79226407	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:79222935-79227274	GM18505	blood:	n/a	n/a
10	POLR2A	chr15:79222965-79226417	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:79222991-79226179	GM18951	blood:	n/a	n/a
12	POLR2A	chr15:79222933-79226857	GM15510	blood:	n/a	n/a
13	POLR2A	chr15:79222923-79227138	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:79222916-79228963	GM12891	blood:	n/a	n/a
15	POLR2A	chr15:79222983-79226444	GM19099	blood:	n/a	n/a
16	POLR2A	chr15:79222987-79227259	GM19193	blood:	n/a	n/a
17	POLR2A	chr15:79223895-79224709	K562	blood:	n/a	n/a
18	POLR2A	chr15:79222867-79226589	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:79222914-79229026	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:79222902-79225299	GM12892	blood:	n/a	n/a
21	POLR2A	chr15:79222964-79226254	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:79223935-79224551	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79224120..79226402-chr15:79226596..79229872,4	MCF-7	breast:
2	chr15:79215592..79220788-chr15:79222055..79225592,6	MCF-7	breast:
3	chr15:79223240..79225058-chr15:79235224..79237418,3	MCF-7	breast:
4	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
5	chr15:79222672..79226174-chr15:79226685..79229932,5	K562	blood:
6	chr15:79222345..79225252-chr15:79235201..79237549,2	K562	blood:

No data

Variant related genes	Relation type
CTSH	TF binding region
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10519214	0.83[AMR][1000 genomes]
rs1075965	0.83[AMR][1000 genomes]
rs12440328	1.00[AFR][1000 genomes]
rs1550065	0.85[ASN][1000 genomes]
rs16970190	0.85[AMR][1000 genomes]
rs16970207	0.83[AMR][1000 genomes]
rs16970215	0.85[AMR][1000 genomes]
rs16970216	0.85[AMR][1000 genomes]
rs16970248	0.83[AMR][1000 genomes]
rs16970350	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1808757	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3803545	0.85[AMR][1000 genomes]
rs3825930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4778627	0.83[AMR][1000 genomes]
rs4778659	0.83[AMR][1000 genomes]
rs4778858	0.85[AMR][1000 genomes]
rs4778952	0.83[AMR][1000 genomes]
rs4779081	0.85[AMR][1000 genomes]
rs4779082	0.83[AMR][1000 genomes]
rs4779161	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56963875	0.83[AMR][1000 genomes]
rs58105551	0.85[AMR][1000 genomes]
rs58807257	0.83[AMR][1000 genomes]
rs60009001	0.85[AMR][1000 genomes]
rs61009187	0.83[AMR][1000 genomes]
rs61504829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73470383	0.85[AMR][1000 genomes]
rs73472313	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7402463	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79199800-79229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:79203600-79231000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:79205400-79227800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:79209800-79225800	Strong transcription	Fetal Stomach	stomach
5	chr15:79210000-79226600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr15:79210000-79227200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:79210200-79227000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:79210200-79228200	Strong transcription	GM12878-XiMat	blood
9	chr15:79210400-79226200	Strong transcription	Fetal Intestine Small	intestine
10	chr15:79210400-79228000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:79210400-79230200	Strong transcription	Fetal Intestine Large	intestine
12	chr15:79212200-79226000	Weak transcription	Fetal Brain Male	brain
13	chr15:79213400-79228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:79214600-79229400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:79215400-79233200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:79215400-79236600	Weak transcription	Small Intestine	intestine
17	chr15:79215600-79229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:79215600-79232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:79215800-79229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:79217200-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:79219400-79229400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:79219400-79229600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:79219600-79225800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:79219600-79226400	Weak transcription	Fetal Brain Female	brain
25	chr15:79219600-79236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:79219800-79226000	Weak transcription	Fetal Kidney	kidney
27	chr15:79219800-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:79220200-79224600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:79220200-79224800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:79220200-79226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:79220200-79226600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:79220200-79227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:79220200-79229200	Weak transcription	Dnd41	blood
34	chr15:79220200-79229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:79220200-79229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:79220200-79230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:79220200-79231800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr15:79220200-79235200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:79220400-79225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:79220600-79224800	Weak transcription	Brain Anterior Caudate	brain
41	chr15:79220600-79225200	Weak transcription	Primary B cells from cord blood	blood
42	chr15:79220600-79225400	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:79220600-79225600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:79220600-79225800	Strong transcription	Gastric	stomach
45	chr15:79220600-79226000	Weak transcription	Aorta	Aorta
46	chr15:79220600-79229400	Weak transcription	Primary T cells from cord blood	blood
47	chr15:79220600-79236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:79220600-79236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:79221200-79224800	Strong transcription	Ovary	ovary
50	chr15:79221200-79229400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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