Variant report

Variant	rs4687706
Chromosome Location	chr3:53190870-53190871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53189219..53190940-chr3:53274136..53276946,2	MCF-7	breast:
2	chr3:53163608..53165597-chr3:53189002..53191742,3	K562	blood:
3	chr3:53160337..53170540-chr3:53189028..53198029,25	MCF-7	breast:
4	chr3:53187844..53191099-chr3:53288490..53291420,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11130344	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130345	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130347	0.83[ASN][1000 genomes]
rs13085294	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358617	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3773728	0.82[ASN][1000 genomes]
rs3773729	0.82[ASN][1000 genomes]
rs4687571	0.85[ASN][1000 genomes]
rs6778939	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7616077	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr3:53182400-53193400	Weak transcription	Psoas Muscle	Psoas
2	chr3:53182400-53193800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:53183200-53194600	Enhancers	Gastric	stomach
4	chr3:53183400-53194600	Enhancers	Pancreas	Pancrea
5	chr3:53184200-53194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:53184400-53193800	Enhancers	Adipose Nuclei	Adipose
7	chr3:53187800-53191800	Enhancers	HMEC	breast
8	chr3:53187800-53194600	Enhancers	Esophagus	oesophagus
9	chr3:53188000-53192000	Enhancers	Right Atrium	heart
10	chr3:53188000-53192800	Weak transcription	Small Intestine	intestine
11	chr3:53188600-53191000	Enhancers	Right Ventricle	heart
12	chr3:53188800-53192800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr3:53189200-53191200	Bivalent Enhancer	Placenta	Placenta
14	chr3:53189200-53191800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr3:53189600-53191400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr3:53189600-53191400	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr3:53189600-53194000	Enhancers	Stomach Mucosa	stomach
18	chr3:53189800-53191000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr3:53189800-53192400	Weak transcription	Hela-S3	cervix
20	chr3:53189800-53192600	Weak transcription	Fetal Kidney	kidney
21	chr3:53190000-53191000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr3:53190000-53191400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr3:53190200-53191000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr3:53190200-53191000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr3:53190200-53191200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:53190200-53191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:53190200-53193200	Weak transcription	Left Ventricle	heart
28	chr3:53190200-53194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:53190400-53191000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr3:53190400-53191000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:53190400-53191000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:53190400-53191000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:53190400-53191000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:53190400-53191800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr3:53190600-53191000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:53190600-53191000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:53190600-53191000	Weak transcription	Liver	Liver
38	chr3:53190600-53191000	Enhancers	Brain Anterior Caudate	brain
39	chr3:53190600-53191000	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr3:53190600-53191000	Bivalent Enhancer	Thymus	Thymus
41	chr3:53190600-53191400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:53190600-53191600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:53190600-53192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:53190600-53192600	Weak transcription	Spleen	Spleen
45	chr3:53190600-53192800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr3:53190600-53194000	Enhancers	Colonic Mucosa	Colon
47	chr3:53190600-53194400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr3:53190800-53191000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr3:53190800-53191000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr3:53190800-53191000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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