Variant report

Variant	rs17108442
Chromosome Location	chr14:71193416-71193417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71192214..71195072-chr14:71196372..71198780,2	K562	blood:
2	chr14:71189704..71191620-chr14:71192243..71194827,2	MCF-7	breast:
3	chr14:71064627..71067403-chr14:71191474..71194294,2	K562	blood:

Variant related genes	Relation type
ENSG00000133997	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12586336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs12586825	1.00[ASN][1000 genomes]
rs12586828	1.00[ASN][1000 genomes]
rs12586899	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590049	0.87[CHD][hapmap]
rs12590343	0.82[ASN][1000 genomes]
rs17108473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17108604	0.86[EUR][1000 genomes]
rs17177097	0.87[CHD][hapmap]
rs17177152	1.00[EUR][1000 genomes]
rs2051857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs2269946	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs2286052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs2286053	0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[ASN][1000 genomes]
rs55634875	0.89[ASN][1000 genomes]
rs55724921	1.00[ASN][1000 genomes]
rs55725720	0.86[ASN][1000 genomes]
rs55727545	0.92[ASN][1000 genomes]
rs55897184	1.00[ASN][1000 genomes]
rs55910358	1.00[ASN][1000 genomes]
rs55941560	0.95[ASN][1000 genomes]
rs56240220	1.00[EUR][1000 genomes]
rs56801523	0.92[ASN][1000 genomes]
rs57221433	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9972195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71177200-71195600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:71180600-71193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:71180600-71196800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:71180600-71196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:71180800-71193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71180800-71196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:71181200-71195800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:71184400-71194400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:71185400-71198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:71185800-71196400	Weak transcription	Colonic Mucosa	Colon
12	chr14:71185800-71196600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:71185800-71198600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
15	chr14:71186000-71195400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:71186000-71195600	Weak transcription	Pancreas	Pancrea
17	chr14:71186000-71196600	Weak transcription	Gastric	stomach
18	chr14:71186000-71196600	Weak transcription	Lung	lung
19	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
21	chr14:71188000-71196800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:71188600-71195600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:71188600-71198600	Weak transcription	Liver	Liver
24	chr14:71188800-71194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:71188800-71198400	Strong transcription	HMEC	breast
26	chr14:71189600-71193800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:71189600-71196000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:71189600-71196000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
30	chr14:71190000-71196200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:71190200-71194000	Weak transcription	Fetal Intestine Small	intestine
33	chr14:71190400-71193600	Weak transcription	A549	lung
34	chr14:71190600-71196000	Weak transcription	Brain Anterior Caudate	brain
35	chr14:71191200-71196200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
37	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:71191800-71196200	Weak transcription	Brain Germinal Matrix	brain
39	chr14:71191800-71196400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:71191800-71198600	Weak transcription	HepG2	liver
41	chr14:71192000-71194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:71192000-71195400	Weak transcription	Esophagus	oesophagus
43	chr14:71192000-71196400	Weak transcription	Brain Angular Gyrus	brain
44	chr14:71192200-71194600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:71192200-71195400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:71192200-71196000	Weak transcription	Fetal Intestine Large	intestine
47	chr14:71192200-71198000	Strong transcription	NHEK	skin
48	chr14:71192400-71194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:71192400-71195600	Weak transcription	Placenta	Placenta
50	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney

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