Variant report

Variant	rs1808757
Chromosome Location	chr15:79229017-79229018
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	MTA3	chr15:79228637-79229061	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:79222914-79229026	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79222672..79226174-chr15:79226685..79229932,5	K562	blood:
2	chr15:79224120..79226402-chr15:79226596..79229872,4	MCF-7	breast:
3	chr15:79228950..79233188-chr15:79235013..79237607,6	K562	blood:
4	chr15:79228914..79232769-chr15:79235901..79239047,4	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12440328	1.00[AFR][1000 genomes]
rs1550065	0.87[ASN][1000 genomes]
rs16970190	0.80[AMR][1000 genomes]
rs16970215	0.80[AMR][1000 genomes]
rs16970216	0.80[AMR][1000 genomes]
rs16970350	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3803545	0.80[AMR][1000 genomes]
rs3825930	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4778858	0.80[AMR][1000 genomes]
rs4779081	0.80[AMR][1000 genomes]
rs4779161	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58105551	0.80[AMR][1000 genomes]
rs59238093	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60009001	0.80[AMR][1000 genomes]
rs61504829	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73470383	0.80[AMR][1000 genomes]
rs73472313	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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:81 , 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	chr15:79210400-79230200	Strong transcription	Fetal Intestine Large	intestine
4	chr15:79214600-79229400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:79215400-79233200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:79215400-79236600	Weak transcription	Small Intestine	intestine
7	chr15:79215600-79229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:79215600-79232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:79215800-79229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:79217200-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:79219400-79229400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:79219400-79229600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:79219600-79236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:79219800-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:79220200-79229200	Weak transcription	Dnd41	blood
16	chr15:79220200-79229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:79220200-79229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:79220200-79230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:79220200-79231800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:79220200-79235200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:79220600-79229400	Weak transcription	Primary T cells from cord blood	blood
22	chr15:79220600-79236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:79220600-79236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:79221200-79229400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:79222000-79232000	Strong transcription	HepG2	liver
26	chr15:79222200-79233400	Weak transcription	Thymus	Thymus
27	chr15:79222400-79236400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:79223600-79229400	Weak transcription	HUVEC	blood vessel
29	chr15:79223800-79236000	Weak transcription	HSMMtube	muscle
30	chr15:79223800-79236200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:79224000-79229600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:79224200-79230200	Strong transcription	Pancreas	Pancrea
33	chr15:79224200-79236400	Weak transcription	Colonic Mucosa	Colon
34	chr15:79224400-79231000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:79224400-79236600	Weak transcription	HMEC	breast
36	chr15:79224600-79236200	Weak transcription	Psoas Muscle	Psoas
37	chr15:79225000-79229400	Weak transcription	Stomach Mucosa	stomach
38	chr15:79225600-79236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:79226400-79236000	Weak transcription	Fetal Kidney	kidney
40	chr15:79226600-79236200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:79226800-79229400	Weak transcription	Ovary	ovary
42	chr15:79227000-79229200	Strong transcription	Fetal Stomach	stomach
43	chr15:79227000-79229600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:79227000-79229600	Weak transcription	Right Atrium	heart
45	chr15:79227000-79236000	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:79227200-79229400	Enhancers	Primary B cells from cord blood	blood
47	chr15:79227200-79230000	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr15:79227200-79230200	Strong transcription	Fetal Intestine Small	intestine
49	chr15:79227200-79231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:79227200-79236000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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