Variant report

Variant	rs930154
Chromosome Location	chr3:88081211-88081212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:88079170..88082380-chr3:88083202..88085793,3	MCF-7	breast:
2	chr3:88080562..88082885-chr3:88098755..88100923,2	MCF-7	breast:
3	chr3:88073344..88075213-chr3:88081187..88083311,2	K562	blood:
4	chr3:88079258..88082127-chr3:88106343..88109218,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163320	Chromatin interaction
ENSG00000229729	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11128023	1.00[EUR][1000 genomes]
rs12632860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13079714	0.84[AFR][1000 genomes]
rs1367615	1.00[EUR][1000 genomes]
rs1431154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431155	1.00[ASN][1000 genomes]
rs1431156	1.00[ASN][1000 genomes]
rs1469570	1.00[ASN][1000 genomes]
rs1594453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835544	1.00[ASN][1000 genomes]
rs1897238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344183	1.00[ASN][1000 genomes]
rs2344184	1.00[ASN][1000 genomes]
rs2567037	1.00[EUR][1000 genomes]
rs2735557	1.00[EUR][1000 genomes]
rs2880793	1.00[ASN][1000 genomes]
rs4241549	1.00[EUR][1000 genomes]
rs4241550	1.00[EUR][1000 genomes]
rs4287925	1.00[EUR][1000 genomes]
rs4404474	1.00[EUR][1000 genomes]
rs4425287	1.00[EUR][1000 genomes]
rs4431134	1.00[ASN][1000 genomes]
rs4443201	1.00[EUR][1000 genomes]
rs4513473	1.00[EUR][1000 genomes]
rs4515075	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616669	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858933	1.00[EUR][1000 genomes]
rs4858970	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858989	1.00[EUR][1000 genomes]
rs6551270	1.00[EUR][1000 genomes]
rs6767497	1.00[ASN][1000 genomes]
rs7615309	1.00[EUR][1000 genomes]
rs7621357	1.00[EUR][1000 genomes]
rs7625641	1.00[EUR][1000 genomes]
rs7633486	1.00[EUR][1000 genomes]
rs7636845	1.00[EUR][1000 genomes]
rs7650749	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650912	1.00[EUR][1000 genomes]
rs7650915	1.00[EUR][1000 genomes]
rs930155	1.00[ASN][1000 genomes]
rs9310062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310064	1.00[ASN][1000 genomes]
rs9310069	1.00[EUR][1000 genomes]
rs9310073	1.00[EUR][1000 genomes]
rs9812903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854250	1.00[ASN][1000 genomes]
rs9860113	1.00[EUR][1000 genomes]
rs9864564	1.00[EUR][1000 genomes]
rs9867614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv536635	chr3:88049304-88088520	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88079200-88081400	Active TSS	GM12878-XiMat	blood
2	chr3:88079400-88081800	Active TSS	NHDF-Ad	bronchial
3	chr3:88080000-88084400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:88080400-88081600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr3:88080400-88081600	Active TSS	Brain Angular Gyrus	brain
6	chr3:88080400-88081600	Active TSS	Brain Anterior Caudate	brain
7	chr3:88080400-88081600	Active TSS	K562	blood
8	chr3:88080400-88081800	Active TSS	Brain Hippocampus Middle	brain
9	chr3:88080400-88081800	Flanking Active TSS	Dnd41	blood
10	chr3:88080400-88081800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:88080400-88082200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:88080600-88081400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:88080600-88081400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr3:88080600-88081400	Active TSS	NHEK	skin
15	chr3:88080600-88081600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr3:88080600-88081600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr3:88080600-88081600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:88080600-88081600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:88080600-88081600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr3:88080600-88081600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:88080600-88081600	Active TSS	Aorta	Aorta
22	chr3:88080600-88081600	Active TSS	Brain Cingulate Gyrus	brain
23	chr3:88080600-88081600	Active TSS	Brain Substantia Nigra	brain
24	chr3:88080600-88081600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:88080600-88081600	Active TSS	Thymus	Thymus
26	chr3:88080600-88081600	Flanking Active TSS	NH-A	brain
27	chr3:88080600-88081800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:88080600-88081800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:88080600-88081800	Flanking Active TSS	Liver	Liver
30	chr3:88080600-88081800	Active TSS	Right Atrium	heart
31	chr3:88080600-88081800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:88080600-88081800	Active TSS	Stomach Smooth Muscle	stomach
33	chr3:88080600-88081800	Flanking Active TSS	HUVEC	blood vessel
34	chr3:88080800-88081400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:88080800-88081400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:88080800-88081400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:88080800-88081400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:88080800-88081400	Active TSS	Fetal Intestine Large	intestine
39	chr3:88080800-88081400	Active TSS	Fetal Intestine Small	intestine
40	chr3:88080800-88081400	Active TSS	Fetal Thymus	thymus
41	chr3:88080800-88081400	Active TSS	Ovary	ovary
42	chr3:88080800-88081400	Active TSS	Pancreas	Pancrea
43	chr3:88080800-88081400	Active TSS	Right Ventricle	heart
44	chr3:88080800-88081400	Active TSS	NHLF	lung
45	chr3:88080800-88081600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:88080800-88081600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:88080800-88081600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr3:88080800-88081600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr3:88080800-88081600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:88080800-88081600	Active TSS	Brain Inferior Temporal Lobe	brain

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