Variant report

Variant	rs752206
Chromosome Location	chr3:194984402-194984403
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:194984265-194984903	HL-60	blood:	n/a	chr3:194984657-194984666 chr3:194984658-194984665 chr3:194984654-194984667

No.	Distal block	Cell Line	Cell type
1	chr3:194978258..194982064-chr3:194982349..194986625,5	MCF-7	breast:
2	chr3:194390925..194393722-chr3:194982636..194985275,2	MCF-7	breast:
3	chr3:194961621..194965085-chr3:194983168..194985887,3	K562	blood:
4	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:

Variant related genes	Relation type
XXYLT1	TF binding region
ENSG00000173950	Chromatin interaction
ENSG00000041802	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12486168	0.82[MKK][hapmap]
rs2410840	0.82[EUR][1000 genomes]
rs4677820	0.85[EUR][1000 genomes]
rs823530	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv984539	chr3:194945800-194984579	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
15	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs752206	FAM43A	cis	parietal	SCAN
rs752206	ACAP2	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194981400-194987800	Weak transcription	Psoas Muscle	Psoas
2	chr3:194981400-194990000	Weak transcription	HSMMtube	muscle
3	chr3:194981400-194990800	Weak transcription	Aorta	Aorta
4	chr3:194981600-194984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:194981600-194984800	Weak transcription	HMEC	breast
6	chr3:194981600-194985000	Weak transcription	K562	blood
7	chr3:194981600-194986000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:194981600-194986200	Weak transcription	Hela-S3	cervix
9	chr3:194981600-194986400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:194981600-194986400	Weak transcription	Left Ventricle	heart
11	chr3:194981600-194986400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:194981600-194986800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:194981600-194987000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:194981600-194989600	Weak transcription	Right Ventricle	heart
15	chr3:194981600-194989800	Weak transcription	Brain Substantia Nigra	brain
16	chr3:194981600-194990000	Weak transcription	A549	lung
17	chr3:194981600-194990200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:194981600-194990200	Weak transcription	HSMM	muscle
19	chr3:194981600-194990600	Weak transcription	Ovary	ovary
20	chr3:194981800-194984600	Weak transcription	Esophagus	oesophagus
21	chr3:194981800-194984800	Weak transcription	Fetal Stomach	stomach
22	chr3:194981800-194986000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:194981800-194986200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:194981800-194986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:194981800-194986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:194981800-194986200	Weak transcription	NHLF	lung
27	chr3:194981800-194986400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:194981800-194986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:194981800-194986600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:194981800-194986800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:194981800-194987200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:194981800-194987400	Weak transcription	Brain Germinal Matrix	brain
33	chr3:194981800-194987800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:194981800-194987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:194981800-194987800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:194981800-194989400	Weak transcription	Brain Angular Gyrus	brain
37	chr3:194981800-194989400	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:194981800-194989400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:194981800-194989600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:194981800-194989600	Weak transcription	Liver	Liver
41	chr3:194981800-194989600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:194981800-194989600	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:194981800-194989600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:194981800-194989600	Weak transcription	Fetal Heart	heart
45	chr3:194981800-194989600	Weak transcription	Lung	lung
46	chr3:194981800-194989600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:194981800-194989800	Weak transcription	Adipose Nuclei	Adipose
48	chr3:194981800-194989800	Weak transcription	Colonic Mucosa	Colon
49	chr3:194981800-194989800	Weak transcription	Fetal Brain Female	brain
50	chr3:194981800-194989800	Weak transcription	Gastric	stomach

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