Variant report

Variant	rs1485331
Chromosome Location	chr3:119300655-119300656
allele	A/G
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	MTA3	chr3:119300224-119301738	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:119300232-119301472	GM12892	blood:	n/a	n/a
3	BHLHE40	chr3:119300502-119301334	GM12878	blood:	n/a	n/a
4	RELA	chr3:119300599-119301445	GM18951	blood:	n/a	n/a
5	POLR2A	chr3:119300315-119301333	GM12878	blood:	n/a	n/a
6	WRNIP1	chr3:119300298-119301768	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:119300306-119301279	GM12892	blood:	n/a	n/a
8	ATF2	chr3:119300642-119301539	GM12878	blood:	n/a	n/a
9	NFATC1	chr3:119300364-119301458	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:119300164-119301211	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:119300092-119301419	GM12892	blood:	n/a	n/a
12	NFATC1	chr3:119300355-119301507	GM12878	blood:	n/a	n/a
13	GATA1	chr3:119300278-119300800	K562	blood:	n/a	n/a
14	CREB1	chr3:119300373-119301811	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:119300537-119301376	GM12892	blood:	n/a	n/a
16	TEAD4	chr3:119300223-119300657	K562	blood:	n/a	n/a
17	POLR2A	chr3:119300083-119301803	GM12878	blood:	n/a	n/a
18	PML	chr3:119300090-119301426	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:119300636-119300953	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119297885..119300271-chr3:119300327..119302628,2	K562	blood:

Variant related genes	Relation type
ENSG00000272967	TF binding region
ADPRH	TF binding region
ENSG00000272967	Chromatin interaction
ENSG00000144843	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs20568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4687867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688018	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119299200-119303400	Weak transcription	Aorta	Aorta
2	chr3:119299200-119307800	Weak transcription	Esophagus	oesophagus
3	chr3:119299200-119308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:119299200-119314600	Weak transcription	Ovary	ovary
5	chr3:119299200-119315000	Weak transcription	Gastric	stomach
6	chr3:119299400-119301200	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:119299400-119304000	Weak transcription	HSMMtube	muscle
8	chr3:119299400-119306200	Weak transcription	Primary B cells from cord blood	blood
9	chr3:119299400-119306400	Weak transcription	Fetal Intestine Large	intestine
10	chr3:119299400-119307400	Weak transcription	Thymus	Thymus
11	chr3:119299400-119307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:119299400-119314200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:119299400-119314400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:119299600-119301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:119299600-119301000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:119299600-119301000	Weak transcription	Left Ventricle	heart
17	chr3:119299600-119301000	Weak transcription	Spleen	Spleen
18	chr3:119299600-119303400	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:119299600-119303400	Weak transcription	Placenta	Placenta
20	chr3:119299600-119303600	Weak transcription	Lung	lung
21	chr3:119299600-119304200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:119299600-119304200	Weak transcription	Osteobl	bone
23	chr3:119299600-119304800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:119299600-119305000	Weak transcription	Fetal Stomach	stomach
25	chr3:119299600-119305000	Weak transcription	Right Ventricle	heart
26	chr3:119299600-119305000	Weak transcription	HSMM	muscle
27	chr3:119299600-119305200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:119299600-119305200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:119299600-119305200	Weak transcription	Pancreas	Pancrea
30	chr3:119299600-119306600	Weak transcription	Fetal Kidney	kidney
31	chr3:119299600-119307200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:119299600-119307200	Weak transcription	Fetal Intestine Small	intestine
33	chr3:119299600-119307200	Weak transcription	Fetal Lung	lung
34	chr3:119299600-119307200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:119299600-119307400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:119299600-119307800	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:119299600-119308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:119299600-119314200	Weak transcription	Brain Substantia Nigra	brain
39	chr3:119299600-119314200	Weak transcription	Psoas Muscle	Psoas
40	chr3:119299800-119300800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:119299800-119301000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:119299800-119301200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:119299800-119303600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:119299800-119303800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:119299800-119304000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:119299800-119304800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:119299800-119305000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:119299800-119305200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:119299800-119305400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:119299800-119305400	Weak transcription	Stomach Smooth Muscle	stomach

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