Variant report

Variant	rs1187586
Chromosome Location	chr14:55047189-55047190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55046162..55049434-chr14:55049873..55053073,4	MCF-7	breast:
2	chr14:55044752..55047282-chr14:55147318..55149216,2	K562	blood:
3	chr14:55046614..55048948-chr14:55068040..55069942,2	K562	blood:
4	chr14:55032238..55035534-chr14:55042399..55047538,9	MCF-7	breast:
5	chr14:55045663..55048624-chr14:55058261..55060394,2	MCF-7	breast:
6	chr14:55037874..55042075-chr14:55045294..55049013,4	MCF-7	breast:
7	chr14:55044207..55047858-chr14:55049608..55052979,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1187591	0.81[ASN][1000 genomes]
rs1187593	0.81[ASN][1000 genomes]
rs1187595	0.81[ASN][1000 genomes]
rs1202668	0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1211170	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2763567	0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.81[ASN][1000 genomes]
rs942604	0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1187586	KLHDC1	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55034800-55050400	Weak transcription	Gastric	stomach
2	chr14:55035200-55047200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55036200-55073000	Weak transcription	Pancreas	Pancrea
4	chr14:55036400-55049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55036400-55058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55036600-55047400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55037000-55058600	Weak transcription	Spleen	Spleen
8	chr14:55040200-55050800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:55040800-55047200	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:55041000-55050200	Weak transcription	Liver	Liver
11	chr14:55041000-55058400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:55041200-55050600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:55041200-55051000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55041400-55051000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:55041400-55056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:55041400-55057600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:55043400-55055000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:55043400-55055600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:55043600-55064600	Weak transcription	K562	blood
20	chr14:55044000-55055800	Weak transcription	HMEC	breast
21	chr14:55044000-55057800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:55044400-55048200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:55044400-55056800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:55044400-55058000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:55044600-55047200	Weak transcription	Aorta	Aorta
26	chr14:55044600-55048000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:55044600-55053000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:55044800-55047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:55044800-55049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:55044800-55056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:55044800-55057800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:55045000-55048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:55045000-55048200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:55045000-55049000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:55045000-55049000	Weak transcription	NHDF-Ad	bronchial
36	chr14:55045000-55052400	Weak transcription	Fetal Lung	lung
37	chr14:55045000-55055400	Weak transcription	HSMM	muscle
38	chr14:55045000-55055600	Weak transcription	Osteobl	bone
39	chr14:55045000-55055800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:55045000-55055800	Weak transcription	NH-A	brain
41	chr14:55045000-55056800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:55045000-55057200	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:55045000-55060800	Weak transcription	Adipose Nuclei	Adipose
44	chr14:55045000-55066800	Weak transcription	Brain Anterior Caudate	brain
45	chr14:55045200-55047200	Enhancers	A549	lung
46	chr14:55045200-55056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:55045200-55056600	Weak transcription	HSMMtube	muscle
48	chr14:55045200-55066600	Weak transcription	Fetal Stomach	stomach
49	chr14:55045600-55051000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:55045800-55047400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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