Variant report

Variant	rs6846609
Chromosome Location	chr4:143767288-143767289
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143764792..143768376-chr4:144104488..144107848,3	MCF-7	breast:
2	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:
3	chr4:143470482..143472862-chr4:143765653..143767436,2	MCF-7	breast:
4	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170185	Chromatin interaction
ENSG00000250326	Chromatin interaction
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11100761	0.80[ASN][1000 genomes]
rs11736709	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13112916	0.81[ASN][1000 genomes]
rs13122287	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13145724	0.81[ASN][1000 genomes]
rs1441411	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441417	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1441418	0.80[ASN][1000 genomes]
rs1444949	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1444950	0.84[ASN][1000 genomes]
rs1992417	0.82[AMR][1000 genomes]
rs1992418	0.82[AMR][1000 genomes]
rs1992652	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2218240	0.81[ASN][1000 genomes]
rs4575951	0.81[ASN][1000 genomes]
rs4690728	0.81[ASN][1000 genomes]
rs4690729	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58445560	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60263370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537129	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6537130	0.81[ASN][1000 genomes]
rs6811022	0.80[ASN][1000 genomes]
rs6822703	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6823627	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828896	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6831204	0.82[ASN][1000 genomes]
rs6838663	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839158	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728694	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72728700	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72730409	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73850583	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7656375	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7660533	0.80[ASN][1000 genomes]
rs7663475	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7670139	0.81[ASN][1000 genomes]
rs7685997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994364	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143764800-143768800	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:143765400-143768400	Active TSS	Aorta	Aorta
3	chr4:143765600-143768000	Active TSS	Right Ventricle	heart
4	chr4:143765600-143768600	Active TSS	Brain Angular Gyrus	brain
5	chr4:143765800-143767400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143765800-143767800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:143765800-143768200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr4:143766000-143768600	Active TSS	A549	lung
9	chr4:143766200-143768200	Active TSS	Ovary	ovary
10	chr4:143766200-143768400	Active TSS	Fetal Heart	heart
11	chr4:143766200-143768400	Active TSS	Right Atrium	heart
12	chr4:143766200-143768600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr4:143766200-143768600	Active TSS	Left Ventricle	heart
14	chr4:143766200-143768800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:143766200-143768800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:143766400-143767600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr4:143766400-143767800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:143766400-143768000	Active TSS	HSMM	muscle
19	chr4:143766400-143768600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:143766400-143768600	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr4:143766400-143768600	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr4:143766600-143767400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr4:143766600-143767600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:143766600-143767600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr4:143766600-143768000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:143766600-143768000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:143766600-143768000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:143766600-143768000	Active TSS	NHLF	lung
29	chr4:143766600-143768200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:143766600-143768200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:143766600-143768200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:143766600-143768200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr4:143766600-143768200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
34	chr4:143766600-143768200	Active TSS	HSMMtube	muscle
35	chr4:143766600-143768400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr4:143766600-143768400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:143766600-143768400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:143766600-143768400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr4:143766600-143768600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr4:143766600-143768600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr4:143766600-143768600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:143766600-143768600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr4:143766600-143768600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:143766600-143768600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:143766600-143768600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:143766600-143768600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr4:143766600-143768600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr4:143766600-143768600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr4:143766600-143768600	Active TSS	Brain Substantia Nigra	brain
50	chr4:143766600-143768600	Active TSS	Psoas Muscle	Psoas

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