Variant report

Variant	rs1870323
Chromosome Location	chr11:86188152-86188153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86186448..86190207-chr11:86221573..86225734,3	K562	blood:
2	chr11:86187917..86189505-chr11:86207650..86209497,2	K562	blood:
3	chr11:86187402..86190173-chr11:86451965..86454595,2	MCF-7	breast:
4	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:
5	chr11:86187209..86189140-chr11:86192637..86195160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12224723	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1458384	0.92[CEU][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap]
rs17159928	0.92[CEU][hapmap];0.84[LWK][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs2125358	0.92[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap];0.91[ASN][1000 genomes]
rs7125366	0.92[CEU][hapmap]
rs767776	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7943741	0.93[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	24025145	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1870323	PRSS23	cis	parietal	SCAN
rs1870323	SYTL2	cis	lymphoblastoid	seeQTL
rs1870323	PRSS23	cis	multi-tissue	Pritchard

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
4	chr11:86171800-86188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
6	chr11:86172400-86192800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:86172600-86194800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:86172800-86188800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:86174600-86188800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:86176800-86188600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:86181800-86208800	Weak transcription	Gastric	stomach
16	chr11:86183800-86189600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:86184000-86188200	Enhancers	Right Atrium	heart
18	chr11:86184400-86190000	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:86184800-86188600	Enhancers	HUVEC	blood vessel
20	chr11:86184800-86189600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:86184800-86190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:86185000-86188600	Weak transcription	K562	blood
23	chr11:86185200-86191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:86185600-86188600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:86185600-86188800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:86185600-86188800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:86185600-86193800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:86185800-86188600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:86185800-86188800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:86185800-86188800	Weak transcription	Adipose Nuclei	Adipose
31	chr11:86185800-86188800	Weak transcription	HSMM	muscle
32	chr11:86185800-86189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:86185800-86191400	Weak transcription	NHEK	skin
34	chr11:86185800-86195000	Weak transcription	Lung	lung
35	chr11:86186000-86191400	Weak transcription	HMEC	breast
36	chr11:86186400-86191200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:86186400-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:86186600-86188200	Enhancers	Fetal Brain Male	brain
39	chr11:86187000-86188800	Enhancers	Fetal Kidney	kidney
40	chr11:86187000-86189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:86187000-86189400	Enhancers	NHLF	lung
42	chr11:86187200-86188200	Enhancers	Fetal Intestine Small	intestine
43	chr11:86187200-86188200	Enhancers	Right Ventricle	heart
44	chr11:86187200-86189000	Enhancers	Duodenum Mucosa	Duodenum
45	chr11:86187200-86189200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:86187200-86189200	Enhancers	A549	lung
47	chr11:86187200-86189400	Enhancers	Colon Smooth Muscle	Colon
48	chr11:86187200-86189600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:86187200-86189800	Enhancers	NHDF-Ad	bronchial
50	chr11:86187400-86188200	Weak transcription	Fetal Lung	lung

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