Variant report

Variant	rs1150500
Chromosome Location	chr2:73121443-73121444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73120021..73122836-chr2:73296483..73298953,2	MCF-7	breast:
2	chr2:73120386..73123296-chr2:73155183..73157726,2	MCF-7	breast:
3	chr2:73120212..73121482-chr2:73390613..73391476,3	K562	blood:
4	chr2:73119837..73121902-chr2:73162197..73164658,2	MCF-7	breast:
5	chr2:73120479..73122664-chr2:73142198..73144015,2	K562	blood:
6	chr2:73119506..73121648-chr2:73200422..73201747,10	MCF-7	breast:
7	chr2:73119951..73122454-chr2:73199831..73202136,4	MCF-7	breast:
8	chr2:73112447..73116634-chr2:73117615..73122766,9	K562	blood:
9	chr2:73119149..73121443-chr2:73161355..73163899,24	MCF-7	breast:
10	chr2:73120421..73123363-chr2:73158369..73162511,4	MCF-7	breast:
11	chr2:73118666..73121533-chr2:73149526..73151475,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116096	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000135638	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10211019	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1027848	0.80[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10496186	0.91[CEU][hapmap]
rs10865393	0.80[EUR][1000 genomes]
rs11126385	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1161265	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11894160	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622275	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12713775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12989141	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12996406	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs13035731	0.83[AMR][1000 genomes]
rs1508061	1.00[CHB][hapmap]
rs1567230	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1995734	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2048171	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2420880	1.00[CEU][hapmap]
rs2420881	0.80[EUR][1000 genomes]
rs2420883	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321391	1.00[CEU][hapmap]
rs4852298	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6546783	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6546786	0.86[AMR][1000 genomes]
rs6546788	0.86[AMR][1000 genomes]
rs6546789	0.86[AMR][1000 genomes]
rs6546792	0.83[AMR][1000 genomes]
rs6730083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739002	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750740	0.82[EUR][1000 genomes]
rs6758431	0.80[EUR][1000 genomes]
rs6758542	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7580268	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7586787	0.85[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7592155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs925146	0.80[EUR][1000 genomes]
rs925147	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs925148	0.80[EUR][1000 genomes]
rs990569	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1150500	MPHOSPH10	cis	cerebellum	SCAN
rs1150500	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73115400-73122800	Weak transcription	Aorta	Aorta
2	chr2:73115600-73121800	Weak transcription	NHDF-Ad	bronchial
3	chr2:73115600-73123000	Weak transcription	HSMM	muscle
4	chr2:73115800-73122000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:73116000-73121600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:73116200-73122000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:73116400-73121600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:73117000-73122800	Weak transcription	Right Atrium	heart
9	chr2:73119000-73123400	Weak transcription	Hela-S3	cervix
10	chr2:73119400-73121600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:73119400-73122400	Weak transcription	HUVEC	blood vessel
12	chr2:73119600-73121600	Weak transcription	Esophagus	oesophagus
13	chr2:73119600-73121800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:73119600-73122800	Weak transcription	Left Ventricle	heart
15	chr2:73119800-73121600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:73119800-73121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:73119800-73122400	Weak transcription	Spleen	Spleen
18	chr2:73119800-73122800	Weak transcription	Lung	lung
19	chr2:73120000-73122600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:73120000-73122800	Weak transcription	Pancreas	Pancrea
21	chr2:73120000-73123400	Enhancers	HMEC	breast
22	chr2:73120200-73123200	Enhancers	GM12878-XiMat	blood
23	chr2:73120400-73122400	Weak transcription	K562	blood
24	chr2:73120400-73122600	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr2:73120600-73121600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr2:73120800-73122800	Weak transcription	Gastric	stomach
27	chr2:73121000-73121600	Enhancers	Fetal Brain Male	brain
28	chr2:73121000-73121800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:73121000-73121800	Enhancers	NHEK	skin
30	chr2:73121000-73122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:73121000-73122600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:73121000-73123400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:73121000-73123600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:73121000-73124000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:73121200-73121600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr2:73121200-73121800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:73121200-73123000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:73121200-73123200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr2:73121200-73123200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:73121400-73121800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:73121400-73122400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:73121400-73123200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:73121400-73123400	Weak transcription	A549	lung
44	chr2:73121400-73124200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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