Variant report

Variant	rs1995151
Chromosome Location	chr1:213376717-213376718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213374889..213377014-chr1:214453337..214454905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10127851	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864034	0.86[AMR][1000 genomes]
rs10864036	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10864038	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120082	0.80[CEU][hapmap]
rs11120102	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1391549	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391550	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498357	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1566247	0.86[AMR][1000 genomes]
rs17020338	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173398	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2494767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2817976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2817978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2817984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2841425	0.96[ASN][1000 genomes]
rs2841427	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2841439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002285	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs3010787	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs3124668	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs4655386	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951476	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4951479	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4951662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4951677	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6419469	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6419470	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6540778	0.85[AMR][1000 genomes]
rs6540780	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6540781	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6540782	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6657234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6658259	0.84[AMR][1000 genomes]
rs6666814	0.85[AMR][1000 genomes]
rs6671872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6691488	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes]
rs6692056	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6692144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6693291	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697921	0.80[CEU][hapmap]
rs6699158	0.82[AMR][1000 genomes]
rs6700169	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535369	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7547274	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9308430	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429901	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429902	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430118	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430120	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9430121	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9430122	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430123	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv1794228	chr1:213355519-213379480	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1995151	ANGEL2	cis	Nerve Tibial	GTEx
rs1995151	ANGEL2	cis	Esophagus Mucosa	GTEx
rs1995151	RPS6KC1	cis	Artery Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
3	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
4	chr1:213345600-213404600	Weak transcription	Osteobl	bone
5	chr1:213346200-213387400	Weak transcription	Gastric	stomach
6	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
7	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:213360600-213378000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:213361600-213386600	Weak transcription	Aorta	Aorta
11	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:213368200-213378200	Weak transcription	K562	blood
13	chr1:213368200-213386600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:213368200-213387200	Weak transcription	Lung	lung
15	chr1:213369600-213388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
17	chr1:213370600-213380200	Weak transcription	Fetal Stomach	stomach
18	chr1:213370800-213380600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:213371000-213389400	Weak transcription	Right Ventricle	heart
21	chr1:213371600-213385000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:213371600-213385400	Weak transcription	NHDF-Ad	bronchial
23	chr1:213371800-213378000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:213371800-213386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:213371800-213387200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:213371800-213388800	Weak transcription	HepG2	liver
27	chr1:213371800-213390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:213372000-213389800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:213372000-213393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:213372600-213377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:213372600-213390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:213372800-213377800	Weak transcription	Fetal Kidney	kidney
35	chr1:213372800-213387200	Weak transcription	Liver	Liver
36	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:213373000-213377200	Weak transcription	Ovary	ovary
38	chr1:213373000-213377400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:213373000-213378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:213373000-213378200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:213373000-213385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:213373000-213386000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:213373000-213398000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
45	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:213373200-213377200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr1:213373200-213378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:213373200-213378400	Weak transcription	Primary B cells from cord blood	blood
50	chr1:213373200-213380000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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