Variant report

Variant	rs73063147
Chromosome Location	chr3:194907527-194907528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:194907148-194907640	HL-60	blood:	n/a	n/a
2	RELA	chr3:194906963-194907620	GM12891	blood:	n/a	n/a
3	RCOR1	chr3:194907214-194907541	K562	blood:	n/a	n/a
4	SPI1	chr3:194907213-194907553	GM12891	blood:	n/a	n/a
5	ZNF384	chr3:194907275-194907719	K562	blood:	n/a	n/a
6	NFIC	chr3:194907150-194907589	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194905664..194908891-chr3:194914398..194916423,3	K562	blood:
2	chr3:194897295..194902185-chr3:194905804..194909141,6	K562	blood:
3	chr3:194906722..194908372-chr3:194922771..194924714,2	MCF-7	breast:
4	chr3:194906815..194911611-chr3:194916675..194920611,6	K562	blood:
5	chr3:194897295..194902438-chr3:194905804..194908922,5	K562	blood:
6	chr3:194903828..194906492-chr3:194907226..194909497,3	K562	blood:

No data

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56255905	1.00[AMR][1000 genomes]
rs57903120	1.00[AMR][1000 genomes]
rs59902366	1.00[AMR][1000 genomes]
rs61371162	1.00[AMR][1000 genomes]
rs6437459	1.00[AMR][1000 genomes]
rs6775088	1.00[AMR][1000 genomes]
rs6784851	1.00[AMR][1000 genomes]
rs73062362	1.00[AMR][1000 genomes]
rs73062364	1.00[AMR][1000 genomes]
rs73062366	1.00[AMR][1000 genomes]
rs73062367	1.00[AMR][1000 genomes]
rs73063135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063140	1.00[AMR][1000 genomes]
rs73063142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063144	1.00[AMR][1000 genomes]
rs73063157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079469	1.00[AMR][1000 genomes]
rs7623299	1.00[AMR][1000 genomes]
rs7651863	1.00[AMR][1000 genomes]
rs7651951	1.00[AMR][1000 genomes]

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	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
2	chr3:194896600-194908000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:194896600-194909200	Weak transcription	Pancreas	Pancrea
4	chr3:194901200-194908600	Weak transcription	Fetal Heart	heart
5	chr3:194901600-194909000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:194903000-194909000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:194903000-194909000	Weak transcription	Ovary	ovary
8	chr3:194903000-194915200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:194903200-194909000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:194903200-194909000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:194903200-194915000	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:194903400-194908200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:194903400-194908600	Weak transcription	HSMM	muscle
14	chr3:194903600-194908800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:194903600-194909000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:194903600-194909000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:194903800-194908000	Weak transcription	Osteobl	bone
18	chr3:194903800-194908600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:194903800-194908800	Weak transcription	Fetal Kidney	kidney
20	chr3:194904000-194908800	Weak transcription	Fetal Brain Female	brain
21	chr3:194904200-194908400	Weak transcription	Fetal Lung	lung
22	chr3:194904400-194907600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:194904400-194908200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:194904400-194908400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:194904600-194907600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:194904600-194908000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:194904600-194908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:194904600-194908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:194904600-194908400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:194904600-194916400	Weak transcription	Right Atrium	heart
31	chr3:194904800-194908200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:194904800-194908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:194904800-194908600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:194905000-194908000	Weak transcription	Fetal Stomach	stomach
35	chr3:194905000-194908800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:194905600-194907600	Enhancers	Primary B cells from peripheral blood	blood
37	chr3:194905600-194907600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr3:194905600-194907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:194905600-194908200	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:194905600-194909000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:194905600-194909600	Enhancers	Placenta	Placenta
42	chr3:194905600-194910000	Enhancers	K562	blood
43	chr3:194905800-194908400	Enhancers	NHEK	skin
44	chr3:194905800-194909600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:194906000-194907600	Enhancers	Esophagus	oesophagus
46	chr3:194906000-194908400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:194906000-194908400	Enhancers	NHDF-Ad	bronchial
48	chr3:194906000-194909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:194906000-194909400	Enhancers	Stomach Smooth Muscle	stomach
50	chr3:194906000-194909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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