Variant report

Variant	rs2289695
Chromosome Location	chr15:79217631-79217632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:79215592..79220788-chr15:79222055..79225592,6	MCF-7	breast:
2	chr15:79215921..79218148-chr15:79221781..79223713,2	MCF-7	breast:
3	chr15:79216646..79219513-chr15:79226461..79228629,2	MCF-7	breast:
4	chr15:79217200..79220348-chr15:79270743..79273551,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177699	Chromatin interaction
ENSG00000103811	Chromatin interaction
ENSG00000058335	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10152868	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10444811	0.88[YRI][hapmap]
rs10519219	0.84[JPT][hapmap]
rs12050510	0.87[YRI][hapmap]
rs12438433	0.84[JPT][hapmap]
rs12440862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12441725	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16970287	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16970344	0.83[JPT][hapmap]
rs2289697	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289698	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289700	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3784537	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784538	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784540	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825931	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58119858	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60888706	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60944855	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7161986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7163828	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182836	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73470389	1.00[EUR][1000 genomes]
rs8029496	0.89[YRI][hapmap]
rs8034542	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8039683	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9302286	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2289695	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79178200-79219400	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:79190000-79222200	Strong transcription	Thymus	Thymus
3	chr15:79199600-79218800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:79199800-79229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:79203600-79231000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:79204800-79219600	Strong transcription	Fetal Brain Female	brain
7	chr15:79205000-79219000	Weak transcription	Fetal Kidney	kidney
8	chr15:79205400-79227800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:79205800-79223600	Weak transcription	Stomach Mucosa	stomach
10	chr15:79208200-79221800	Weak transcription	HMEC	breast
11	chr15:79208200-79223000	Weak transcription	Right Atrium	heart
12	chr15:79208400-79220400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:79208400-79221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:79208600-79223000	Weak transcription	Hela-S3	cervix
15	chr15:79209400-79218000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:79209400-79220200	Strong transcription	Fetal Thymus	thymus
17	chr15:79209600-79220200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:79209600-79220200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:79209600-79220600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:79209800-79220400	Strong transcription	Adipose Nuclei	Adipose
21	chr15:79209800-79225800	Strong transcription	Fetal Stomach	stomach
22	chr15:79210000-79226600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr15:79210000-79227200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:79210200-79218000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:79210200-79218200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:79210200-79219800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:79210200-79227000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:79210200-79228200	Strong transcription	GM12878-XiMat	blood
29	chr15:79210400-79220200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:79210400-79220400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:79210400-79220600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:79210400-79222200	Strong transcription	Liver	Liver
33	chr15:79210400-79226200	Strong transcription	Fetal Intestine Small	intestine
34	chr15:79210400-79228000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:79210400-79230200	Strong transcription	Fetal Intestine Large	intestine
36	chr15:79210600-79220200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:79211000-79219400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:79211200-79218600	Weak transcription	K562	blood
39	chr15:79211600-79220600	Strong transcription	Primary T cells from cord blood	blood
40	chr15:79211600-79220600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:79211800-79218200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr15:79212000-79222400	Strong transcription	Left Ventricle	heart
43	chr15:79212200-79226000	Weak transcription	Fetal Brain Male	brain
44	chr15:79212400-79219000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:79212400-79220200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:79213200-79220400	Strong transcription	Colon Smooth Muscle	Colon
47	chr15:79213400-79218400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr15:79213400-79220600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:79213400-79220600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:79213400-79228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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