Variant report

Variant	rs6804467
Chromosome Location	chr3:194968776-194968777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr3:194968547-194968790	K562	blood:	n/a	n/a
2	GABPA	chr3:194968466-194968883	K562	blood:	n/a	n/a
3	MAX	chr3:194968597-194968832	K562	blood:	n/a	n/a
4	CBX3	chr3:194968473-194969438	K562	blood:	n/a	n/a
5	CHD2	chr3:194968498-194968783	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB33	chr3:194968467-194968791	GM12878	blood:	n/a	n/a
7	SPI1	chr3:194968552-194968810	GM12891	blood:	n/a	n/a
8	E2F6	chr3:194968528-194968887	K562	blood:	n/a	n/a
9	CHD2	chr3:194968448-194968839	K562	blood:	n/a	n/a
10	ZBTB33	chr3:194968382-194968850	K562	blood:	n/a	n/a
11	CHD2	chr3:194968640-194968778	GM12878	blood:	n/a	n/a
12	MAX	chr3:194968592-194968856	K562	blood:	n/a	n/a
13	MAX	chr3:194968506-194968873	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194967605..194970943-chr3:194977628..194981159,3	K562	blood:

No data

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

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10933702	0.95[EUR][1000 genomes]
rs10933703	0.95[EUR][1000 genomes]
rs11917438	0.95[EUR][1000 genomes]
rs11919965	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928199	1.00[ASN][1000 genomes]
rs12485302	0.83[ASN][1000 genomes]
rs12485800	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12486168	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs12486220	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs12486636	1.00[CHB][hapmap]
rs12486805	1.00[CHB][hapmap]
rs12486835	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs12487670	1.00[CHB][hapmap]
rs12488616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488979	1.00[CHB][hapmap]
rs12489090	1.00[CHB][hapmap]
rs12490460	1.00[CHB][hapmap]
rs12490658	1.00[CHB][hapmap]
rs12491026	1.00[CHB][hapmap]
rs12491371	1.00[CHB][hapmap]
rs12491426	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12491902	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12492289	0.85[EUR][1000 genomes]
rs12492552	1.00[CHB][hapmap]
rs12492644	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12493888	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12494306	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12494759	1.00[CHB][hapmap]
rs12494773	1.00[CHB][hapmap]
rs12494820	0.88[CHB][hapmap]
rs12495659	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12496628	0.90[EUR][1000 genomes]
rs12497478	1.00[CHB][hapmap]
rs12497906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12498063	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808074	0.83[ASN][1000 genomes]
rs2050807	1.00[CHB][hapmap]
rs35899174	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773419	0.83[ASN][1000 genomes]
rs3773420	0.83[ASN][1000 genomes]
rs3796161	1.00[CHB][hapmap]
rs56835677	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58113840	0.84[EUR][1000 genomes]
rs59579668	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61022222	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6437466	0.95[EUR][1000 genomes]
rs66510151	0.84[EUR][1000 genomes]
rs67388686	0.95[EUR][1000 genomes]
rs67484513	0.84[EUR][1000 genomes]
rs6767801	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6777904	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs6785108	0.90[EUR][1000 genomes]
rs6790425	0.98[ASN][1000 genomes]
rs6798243	1.00[CHB][hapmap]
rs72499624	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72499625	0.85[ASN][1000 genomes]
rs72607893	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72607894	0.85[ASN][1000 genomes]
rs72607896	0.83[ASN][1000 genomes]
rs72607897	0.83[ASN][1000 genomes]
rs72607898	0.83[ASN][1000 genomes]
rs72607899	0.83[ASN][1000 genomes]
rs72607900	0.83[ASN][1000 genomes]
rs72607901	0.83[ASN][1000 genomes]
rs72607902	0.83[ASN][1000 genomes]
rs72611103	0.81[ASN][1000 genomes]
rs755202	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7642127	1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs7653179	1.00[CHB][hapmap]
rs999331	1.00[CHB][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:194955000-194973200	Weak transcription	NH-A	brain
4	chr3:194956600-194972800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:194957200-194971800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:194957200-194972800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:194957400-194979800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:194957600-194975400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:194958400-194979400	Weak transcription	K562	blood
10	chr3:194958600-194970200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:194958800-194971600	Weak transcription	Thymus	Thymus
12	chr3:194959200-194979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:194959600-194971600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:194959600-194971600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:194959600-194973200	Weak transcription	Osteobl	bone
16	chr3:194959800-194971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:194959800-194971600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:194959800-194971600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr3:194959800-194971600	Weak transcription	Placenta	Placenta
20	chr3:194959800-194973400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:194959800-194973800	Weak transcription	NHLF	lung
22	chr3:194960000-194978600	Weak transcription	Brain Substantia Nigra	brain
23	chr3:194960200-194971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:194960200-194973400	Weak transcription	Fetal Intestine Large	intestine
25	chr3:194961200-194970800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:194961200-194975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:194961600-194970800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:194961600-194971400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:194961600-194978600	Weak transcription	HUVEC	blood vessel
30	chr3:194961600-194979400	Weak transcription	Pancreas	Pancrea
31	chr3:194961800-194978800	Weak transcription	Lung	lung
32	chr3:194962000-194971200	Weak transcription	Small Intestine	intestine
33	chr3:194962000-194977800	Weak transcription	Right Ventricle	heart
34	chr3:194962000-194978800	Weak transcription	Gastric	stomach
35	chr3:194962600-194970000	Weak transcription	Esophagus	oesophagus
36	chr3:194962600-194979400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:194963600-194971400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:194963800-194973600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:194964600-194971200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:194964800-194971400	Weak transcription	GM12878-XiMat	blood
41	chr3:194965000-194971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:194965200-194979600	Weak transcription	Right Atrium	heart
43	chr3:194966000-194972000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:194966200-194968800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:194966200-194968800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:194966200-194968800	Strong transcription	Fetal Stomach	stomach
47	chr3:194966200-194969200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:194966200-194970000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:194966600-194969000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:194966600-194978600	Weak transcription	HepG2	liver

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