Variant report

Variant	rs1161265
Chromosome Location	chr2:73121942-73121943
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr2:73120479..73122664-chr2:73142198..73144015,2	K562	blood:
4	chr2:73121577..73123511-chr2:73125505..73127830,2	MCF-7	breast:
5	chr2:73119951..73122454-chr2:73199831..73202136,4	MCF-7	breast:
6	chr2:73112447..73116634-chr2:73117615..73122766,9	K562	blood:
7	chr2:73120421..73123363-chr2:73158369..73162511,4	MCF-7	breast:
8	chr2:73121732..73122347-chr2:73162003..73162549,2	MCF-7	breast:

No data

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

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10211019	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	0.85[EUR][1000 genomes]
rs1150500	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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11894160	0.85[EUR][1000 genomes]
rs12622275	0.80[EUR][1000 genomes]
rs12713775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs12989141	0.85[EUR][1000 genomes]
rs12996406	0.91[CEU][hapmap];1.00[CHB][hapmap]
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	0.80[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];0.85[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]
rs6730083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739002	0.85[EUR][1000 genomes]
rs6750740	0.82[EUR][1000 genomes]
rs6758431	0.80[EUR][1000 genomes]
rs6758542	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];0.85[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];0.85[EUR][1000 genomes]
rs925146	0.80[EUR][1000 genomes]
rs925147	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1161265	MPHOSPH10	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73115400-73122800	Weak transcription	Aorta	Aorta
2	chr2:73115600-73123000	Weak transcription	HSMM	muscle
3	chr2:73115800-73122000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:73116200-73122000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:73117000-73122800	Weak transcription	Right Atrium	heart
6	chr2:73119000-73123400	Weak transcription	Hela-S3	cervix
7	chr2:73119400-73122400	Weak transcription	HUVEC	blood vessel
8	chr2:73119600-73122800	Weak transcription	Left Ventricle	heart
9	chr2:73119800-73122400	Weak transcription	Spleen	Spleen
10	chr2:73119800-73122800	Weak transcription	Lung	lung
11	chr2:73120000-73122600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:73120000-73122800	Weak transcription	Pancreas	Pancrea
13	chr2:73120000-73123400	Enhancers	HMEC	breast
14	chr2:73120200-73123200	Enhancers	GM12878-XiMat	blood
15	chr2:73120400-73122400	Weak transcription	K562	blood
16	chr2:73120400-73122600	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr2:73120800-73122800	Weak transcription	Gastric	stomach
18	chr2:73121000-73122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:73121000-73122600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:73121000-73123400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:73121000-73123600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr2:73121000-73124000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:73121200-73123000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:73121200-73123200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr2:73121200-73123200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:73121400-73122400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:73121400-73123200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:73121400-73123400	Weak transcription	A549	lung
29	chr2:73121400-73124200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:73121600-73122000	Weak transcription	Fetal Brain Male	brain
31	chr2:73121600-73122200	Enhancers	Esophagus	oesophagus
32	chr2:73121600-73122600	Enhancers	Fetal Brain Female	brain
33	chr2:73121800-73122000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr2:73121800-73122600	Bivalent Enhancer	NHEK	skin
35	chr2:73121800-73123000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:73121800-73123200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr2:73121800-73123200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:73121800-73123200	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr2:73121800-73123800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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