Variant report

Variant	rs4534140
Chromosome Location	chr8:126284720-126284721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126272432..126274189-chr8:126283876..126286401,2	MCF-7	breast:
2	chr8:126283879..126287098-chr8:126289140..126291457,3	K562	blood:
3	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
4	chr8:126283799..126286168-chr8:126444764..126446499,2	MCF-7	breast:
5	chr8:126271453..126274338-chr8:126284581..126287313,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10108305	0.94[CEU][hapmap]
rs10112737	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900488	0.94[CEU][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367569	0.92[ASN][1000 genomes]
rs4602904	0.94[CEU][hapmap]
rs4604454	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995986	0.81[CEU][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015414	0.84[CEU][hapmap]
rs7016797	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820471	0.84[CEU][hapmap]
rs7841947	0.82[CEU][hapmap]
rs7844497	0.84[CEU][hapmap]
rs7845165	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2617834	chr8:126284070-126285620	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1989590	chr8:126284699-126285370	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:126262200-126288200	Weak transcription	Ovary	ovary
4	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
5	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
7	chr8:126275600-126285200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:126275600-126286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126275800-126289000	Weak transcription	Dnd41	blood
10	chr8:126276800-126285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:126276800-126286000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:126277000-126285400	Weak transcription	Thymus	Thymus
13	chr8:126277000-126285800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:126278000-126286000	Weak transcription	Fetal Thymus	thymus
15	chr8:126278400-126285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126280000-126289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:126280200-126285200	Weak transcription	Right Atrium	heart
18	chr8:126281200-126285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:126281200-126285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:126281400-126285200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:126281400-126285200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:126281600-126285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:126281600-126285200	Weak transcription	Esophagus	oesophagus
24	chr8:126281600-126286000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:126282800-126286200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:126283000-126285000	Weak transcription	Psoas Muscle	Psoas
27	chr8:126283000-126285200	Weak transcription	Left Ventricle	heart
28	chr8:126283400-126286400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:126283400-126286800	Enhancers	HMEC	breast
30	chr8:126283400-126287000	Enhancers	Fetal Intestine Large	intestine
31	chr8:126283400-126288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:126283400-126292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:126283600-126284800	Enhancers	HUVEC	blood vessel
34	chr8:126283600-126286400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:126283600-126286400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:126283600-126286600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:126283600-126286800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:126283600-126287600	Enhancers	Fetal Intestine Small	intestine
39	chr8:126283600-126288000	Enhancers	NHEK	skin
40	chr8:126283800-126286000	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:126283800-126286400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:126283800-126286400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:126283800-126287600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:126284000-126285200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:126284000-126285200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:126284000-126285200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:126284000-126285200	Weak transcription	HSMM	muscle
48	chr8:126284000-126285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:126284000-126286600	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:126284000-126286800	Enhancers	K562	blood

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