Variant report

Variant	rs755202
Chromosome Location	chr3:194990363-194990364
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: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	chr3:194989426..194991874-chr3:195268477..195270198,3	MCF-7	breast:
2	chr3:194990164..194994201-chr3:195268703..195270348,3	K562	blood:
3	chr3:194989462..194991407-chr3:195163007..195164718,2	MCF-7	breast:
4	chr3:194990005..194994037-chr3:194997788..195001012,5	K562	blood:
5	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:
6	chr3:194989967..194994399-chr3:195244037..195248390,6	K562	blood:
7	chr3:194990296..194992305-chr3:195248848..195251348,4	MCF-7	breast:
8	chr3:194979343..194983092-chr3:194989595..194993137,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction
ENSG00000252620	Chromatin interaction
ENSG00000114331	Chromatin interaction
ENSG00000184203	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11919965	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs11921174	0.87[ASN][1000 genomes]
rs11928199	0.87[ASN][1000 genomes]
rs12485302	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12485380	0.84[AMR][1000 genomes]
rs12485407	0.84[AMR][1000 genomes]
rs12485433	0.87[AMR][1000 genomes]
rs12485787	0.84[AMR][1000 genomes]
rs12485800	0.87[ASN][1000 genomes]
rs12486168	1.00[CHB][hapmap]
rs12486220	1.00[CHB][hapmap]
rs12486241	0.84[AMR][1000 genomes]
rs12486536	0.84[AMR][1000 genomes]
rs12486636	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs12486805	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs12486835	1.00[CHB][hapmap]
rs12487670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs12487961	0.84[AMR][1000 genomes]
rs12488451	0.90[AMR][1000 genomes]
rs12488481	0.90[AMR][1000 genomes]
rs12488562	0.87[AMR][1000 genomes]
rs12488616	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12488869	0.84[AMR][1000 genomes]
rs12488979	1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs12489090	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs12489620	0.84[AMR][1000 genomes]
rs12489849	0.90[AMR][1000 genomes]
rs12490460	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs12490658	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[AMR][1000 genomes]
rs12491026	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs12491371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs12491426	0.87[ASN][1000 genomes]
rs12491581	0.87[AMR][1000 genomes]
rs12491670	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12491736	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12491788	0.84[AMR][1000 genomes]
rs12491808	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs12491854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs12491902	0.82[ASN][1000 genomes]
rs12492552	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[AMR][1000 genomes]
rs12492644	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12494306	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12494564	0.84[AMR][1000 genomes]
rs12494759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs12494773	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs12494820	0.88[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs12494883	0.84[AMR][1000 genomes]
rs12495657	0.90[AMR][1000 genomes]
rs12495659	0.80[ASN][1000 genomes]
rs12496202	0.87[AMR][1000 genomes]
rs12496204	0.90[AMR][1000 genomes]
rs12496885	0.84[AMR][1000 genomes]
rs12497178	0.84[AMR][1000 genomes]
rs12497478	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs12497671	0.84[AMR][1000 genomes]
rs12497677	0.84[AMR][1000 genomes]
rs12497906	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs12498063	0.87[ASN][1000 genomes]
rs1808074	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2029707	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs2050807	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes]
rs2050808	0.90[AMR][1000 genomes]
rs34643420	0.90[AMR][1000 genomes]
rs35419807	0.84[AMR][1000 genomes]
rs35899174	0.87[ASN][1000 genomes]
rs3773419	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3773420	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3796161	1.00[CHB][hapmap]
rs41266981	0.84[AMR][1000 genomes]
rs41266999	0.90[AMR][1000 genomes]
rs41267003	0.90[AMR][1000 genomes]
rs56211708	0.87[AMR][1000 genomes]
rs56835677	0.80[ASN][1000 genomes]
rs60040536	0.87[AMR][1000 genomes]
rs6767801	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes]
rs6777904	1.00[CHB][hapmap]
rs6790425	0.85[ASN][1000 genomes]
rs6798243	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs6804467	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72499625	0.80[ASN][1000 genomes]
rs72499627	0.84[AMR][1000 genomes]
rs72607893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607894	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72607895	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72607896	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607897	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607898	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607899	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607900	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607901	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607902	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72611103	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72611104	0.89[ASN][1000 genomes]
rs72611105	0.86[ASN][1000 genomes]
rs7642127	1.00[CHB][hapmap]
rs7653179	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999331	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
7	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
12	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
13	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
14	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
16	esv1818370	chr3:194987569-194995096	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
17	esv1818606	chr3:194987569-194995096	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
18	nsv592983	chr3:194987569-194995096	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
19	nsv592984	chr3:194990363-194991844	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs755202	FAM43A	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194981400-194990800	Weak transcription	Aorta	Aorta
2	chr3:194981600-194990600	Weak transcription	Ovary	ovary
3	chr3:194981800-194990400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:194981800-194990400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:194981800-194990400	Weak transcription	Thymus	Thymus
6	chr3:194981800-194991200	Weak transcription	Small Intestine	intestine
7	chr3:194988600-194990400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:194989400-194990400	Enhancers	Brain Hippocampus Middle	brain
9	chr3:194989400-194990600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:194989400-194990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:194989400-194990800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:194989400-194990800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:194989400-194991000	Enhancers	Spleen	Spleen
14	chr3:194989400-194991200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr3:194989600-194990400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:194989600-194990400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:194989600-194990400	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:194989600-194990400	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:194989600-194990400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr3:194989600-194990400	Enhancers	Fetal Heart	heart
21	chr3:194989600-194990400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:194989600-194990600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:194989600-194990600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr3:194989600-194990600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:194989600-194990600	Enhancers	Liver	Liver
26	chr3:194989600-194990600	Enhancers	Lung	lung
27	chr3:194989600-194990600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:194989600-194990800	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:194989600-194990800	Enhancers	Placenta	Placenta
30	chr3:194989600-194990800	Enhancers	Right Ventricle	heart
31	chr3:194989600-194991000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:194989800-194990400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:194989800-194990400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:194989800-194990400	Enhancers	Primary T cells from cord blood	blood
35	chr3:194989800-194990400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:194989800-194990400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:194989800-194990400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:194989800-194990400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:194989800-194990400	Genic enhancers	Fetal Stomach	stomach
40	chr3:194989800-194990400	Enhancers	HMEC	breast
41	chr3:194989800-194990600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:194989800-194990600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:194989800-194990600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:194989800-194990600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:194989800-194990600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:194989800-194990600	Enhancers	Adipose Nuclei	Adipose
47	chr3:194989800-194990600	Enhancers	Brain Substantia Nigra	brain
48	chr3:194989800-194990600	Enhancers	Fetal Muscle Trunk	muscle
49	chr3:194989800-194990600	Enhancers	Fetal Muscle Leg	muscle
50	chr3:194989800-194990600	Enhancers	Fetal Thymus	thymus

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