Variant report

Variant	rs1150696
Chromosome Location	chr6:28175549-28175550
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28154956..28156603-chr6:28174738..28177213,2	K562	blood:
2	chr6:28174435..28176569-chr6:28303412..28304973,2	MCF-7	breast:
3	chr6:28174526..28176071-chr6:28185476..28187807,2	MCF-7	breast:
4	chr6:28109035..28111134-chr6:28175130..28176632,2	K562	blood:
5	chr6:28170099..28172681-chr6:28173612..28177819,3	K562	blood:
6	chr6:28174974..28177419-chr6:28322626..28324224,2	K562	blood:
7	chr6:28172570..28175998-chr6:28183959..28188768,7	K562	blood:
8	chr6:28154709..28159711-chr6:28172250..28177968,6	K562	blood:
9	chr6:28174164..28176650-chr6:28369447..28371283,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000218016	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000176933	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1150689	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150692	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1150693	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11552219	0.82[ASN][1000 genomes]
rs12174753	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1225598	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1225599	0.86[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332979	0.82[ASN][1000 genomes]
rs1233697	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233699	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233701	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233704	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233705	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233707	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1237875	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1340004	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs149900	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs149961	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs149969	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs149970	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs16893666	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs172166	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs17711344	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17711801	0.81[CEU][hapmap];0.82[ASN][1000 genomes]
rs17774663	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1853097	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1904840	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1904841	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1947862	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1947863	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs203890	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs2273564	0.82[ASN][1000 genomes]
rs2275508	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2281588	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2295594	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3173443	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34131763	0.82[ASN][1000 genomes]
rs34466819	0.82[ASN][1000 genomes]
rs34716816	0.82[ASN][1000 genomes]
rs35193936	0.82[ASN][1000 genomes]
rs35227624	0.82[ASN][1000 genomes]
rs35512245	0.82[ASN][1000 genomes]
rs36078605	0.82[ASN][1000 genomes]
rs3734573	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3757187	0.82[ASN][1000 genomes]
rs3823180	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4711164	0.82[ASN][1000 genomes]
rs4711165	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713135	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713137	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713141	0.82[ASN][1000 genomes]
rs4713142	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713143	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713144	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713145	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713146	0.82[ASN][1000 genomes]
rs4713148	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713150	0.81[ASN][1000 genomes]
rs4713151	0.82[ASN][1000 genomes]
rs4713152	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs56310871	0.82[ASN][1000 genomes]
rs56364346	0.82[ASN][1000 genomes]
rs67878650	0.82[ASN][1000 genomes]
rs6901017	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6922063	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6931858	0.85[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6932109	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6934769	0.82[ASN][1000 genomes]
rs6941992	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7739216	0.81[ASN][1000 genomes]
rs7755442	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868987	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9283884	0.85[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9295758	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9295759	0.80[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9295761	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9295762	0.80[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9348793	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9348794	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9348796	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9348797	0.82[ASN][1000 genomes]
rs9357061	0.82[ASN][1000 genomes]
rs9357063	0.82[ASN][1000 genomes]
rs9357065	0.82[ASN][1000 genomes]
rs9357066	0.82[ASN][1000 genomes]
rs9366715	0.82[ASN][1000 genomes]
rs9368549	0.82[ASN][1000 genomes]
rs9368550	0.82[ASN][1000 genomes]
rs9368551	0.82[ASN][1000 genomes]
rs9368552	0.82[ASN][1000 genomes]
rs9368553	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9368554	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9368555	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9368556	0.82[ASN][1000 genomes]
rs9368557	0.82[ASN][1000 genomes]
rs9368558	0.82[ASN][1000 genomes]
rs9368560	0.95[CEU][hapmap]
rs9380047	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380049	0.82[ASN][1000 genomes]
rs9380050	0.82[ASN][1000 genomes]
rs9380052	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380054	0.82[ASN][1000 genomes]
rs9380055	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380056	0.82[ASN][1000 genomes]
rs9380057	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380058	0.82[ASN][1000 genomes]
rs9380059	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380060	0.82[ASN][1000 genomes]
rs9380061	0.82[ASN][1000 genomes]
rs9380062	0.82[ASN][1000 genomes]
rs9380063	0.82[ASN][1000 genomes]
rs9380065	0.82[ASN][1000 genomes]
rs9380067	0.88[ASN][1000 genomes]
rs9393881	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs9393885	0.82[ASN][1000 genomes]
rs9393886	0.82[ASN][1000 genomes]
rs9393888	0.82[ASN][1000 genomes]
rs9393890	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9393891	0.82[ASN][1000 genomes]
rs9393892	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs9393893	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9393894	0.82[ASN][1000 genomes]
rs9393895	0.82[ASN][1000 genomes]
rs9393897	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9393899	0.82[ASN][1000 genomes]
rs9393901	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9461433	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9468274	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs9468286	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9468290	0.82[ASN][1000 genomes]
rs9468292	0.82[ASN][1000 genomes]
rs9468296	0.82[ASN][1000 genomes]
rs9468297	0.82[ASN][1000 genomes]
rs9468298	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883514	chr6:28155418-28185726	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv883515	chr6:28156476-28181675	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv883516	chr6:28156476-28185726	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1150696	RP1-265C24.5	cis	Heart Left Ventricle	GTEx
rs1150696	AL022393.7	cis	Muscle Skeletal	GTEx
rs1150696	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs1150696	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs1150696		cis	Lymphoblastoid	GTEx
rs1150696	RP1-265C24.5	cis	Muscle Skeletal	GTEx
rs1150696	ZNF165	cis	Nerve Tibial	GTEx
rs1150696	OR2B8P	cis	Thyroid	GTEx
rs1150696	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28174000-28176400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:28174200-28176400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr6:28174600-28176400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:28174600-28176600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:28174800-28175800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:28174800-28175800	Bivalent/Poised TSS	NHEK	skin
7	chr6:28174800-28176200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:28174800-28176200	Bivalent Enhancer	Small Intestine	intestine
9	chr6:28174800-28176400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:28174800-28176400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:28174800-28176400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:28174800-28176400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:28174800-28176400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
14	chr6:28174800-28176400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr6:28174800-28176400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr6:28174800-28176400	Bivalent/Poised TSS	NHLF	lung
17	chr6:28174800-28176600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:28174800-28176600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:28175000-28175600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:28175000-28175600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:28175000-28175600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr6:28175000-28176000	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr6:28175000-28176000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr6:28175000-28176000	Bivalent/Poised TSS	NHDF-Ad	bronchial
25	chr6:28175000-28176200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:28175000-28176200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:28175000-28176200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:28175000-28176200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr6:28175000-28176200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr6:28175000-28176200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:28175000-28176200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:28175000-28176200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr6:28175000-28176400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:28175000-28176400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:28175000-28176400	Active TSS	HMEC	breast
36	chr6:28175000-28176400	Bivalent/Poised TSS	HSMM	muscle
37	chr6:28175000-28176400	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr6:28175200-28175600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:28175200-28175600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:28175200-28175600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:28175200-28175600	Bivalent/Poised TSS	Liver	Liver
42	chr6:28175200-28175600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr6:28175200-28175600	Active TSS	Placenta	Placenta
44	chr6:28175200-28175800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:28175200-28175800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:28175200-28175800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr6:28175200-28175800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr6:28175200-28175800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr6:28175200-28176000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:28175200-28176000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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