Variant report

Variant	rs9847369
Chromosome Location	chr3:119046018-119046019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr3:119045862-119046167	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr3:119045990-119046107	GM12878	blood:	n/a	n/a
3	CTCF	chr3:119045880-119046030	GM12874	blood:	n/a	n/a
4	BHLHE40	chr3:119045813-119046197	GM12878	blood:	n/a	n/a
5	CTCF	chr3:119045877-119046024	GM12878	blood:	n/a	n/a
6	YY1	chr3:119045750-119046076	GM12878	blood:	n/a	n/a
7	YY1	chr3:119045724-119046077	GM12878	blood:	n/a	n/a
8	RUNX3	chr3:119045665-119046259	GM12878	blood:	n/a	n/a
9	NFIC	chr3:119045666-119046192	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:119045687-119046175	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:119045575-119046159	GM12878	blood:	n/a	n/a
12	POU2F2	chr3:119045764-119046248	GM12878	blood:	n/a	n/a
13	CTCF	chr3:119045940-119046090	GM12865	blood:	n/a	n/a
14	CTCF	chr3:119045940-119046090	GM12864	blood:	n/a	n/a
15	MXI1	chr3:119045881-119046104	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119032938..119036654-chr3:119043766..119046984,5	MCF-7	breast:
2	chr3:119032410..119034718-chr3:119043849..119046722,2	K562	blood:
3	chr3:119040533..119045560-chr3:119045561..119050872,12	K562	blood:
4	chr3:119045537..119049626-chr3:119052248..119055183,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP31-AS1	TF binding region
ENSG00000031081	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34260332	1.00[AFR][1000 genomes]
rs58452475	1.00[AFR][1000 genomes]
rs9816023	1.00[AFR][1000 genomes]
rs9821759	0.90[AFR][1000 genomes]
rs9872394	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119047200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:119042600-119047800	Weak transcription	Ovary	ovary
3	chr3:119042600-119048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:119042600-119048000	Weak transcription	Brain Angular Gyrus	brain
5	chr3:119042600-119048000	Weak transcription	NH-A	brain
6	chr3:119042600-119048200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:119042600-119048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:119042600-119048400	Weak transcription	Aorta	Aorta
9	chr3:119042600-119048600	Weak transcription	HSMM	muscle
10	chr3:119042600-119050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:119042600-119050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:119042600-119050400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:119042600-119050400	Weak transcription	HSMMtube	muscle
14	chr3:119042600-119050400	Weak transcription	NHEK	skin
15	chr3:119042600-119054000	Weak transcription	NHLF	lung
16	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
17	chr3:119042800-119046600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:119042800-119047000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:119042800-119048000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:119042800-119048000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:119042800-119048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:119042800-119048000	Weak transcription	Fetal Lung	lung
23	chr3:119042800-119048000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:119042800-119048000	Weak transcription	Right Atrium	heart
25	chr3:119042800-119048000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:119042800-119050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:119042800-119050600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
30	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
35	chr3:119043000-119046600	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:119043000-119047000	Weak transcription	Fetal Stomach	stomach
37	chr3:119043000-119047400	Enhancers	GM12878-XiMat	blood
38	chr3:119043000-119048600	Weak transcription	Right Ventricle	heart
39	chr3:119043000-119050600	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:119043000-119051600	Weak transcription	HUVEC	blood vessel
41	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
42	chr3:119043200-119046200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr3:119043200-119047200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:119043200-119048000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:119043200-119048000	Weak transcription	Lung	lung
46	chr3:119043200-119062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:119043600-119048400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:119043800-119048000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:119043800-119048600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:119043800-119050200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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