Variant report

Variant	rs6692144
Chromosome Location	chr1:213307456-213307457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:
2	chr1:213306346..213308829-chr1:213315366..213317859,2	K562	blood:
3	chr1:213307189..213309993-chr1:213310511..213313013,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10127851	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10465694	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10864034	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864036	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864038	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11120082	0.80[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs1391549	0.85[AMR][1000 genomes]
rs1391550	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1498357	0.86[AMR][1000 genomes]
rs1566247	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1566248	0.82[EUR][1000 genomes]
rs17020338	0.82[AMR][1000 genomes]
rs1976333	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1995151	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]
rs2132428	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs2173398	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2494767	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes]
rs2647387	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2817976	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2817978	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2817981	0.86[AMR][1000 genomes]
rs2817984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2841427	0.85[AMR][1000 genomes]
rs2841439	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2935219	0.81[AMR][1000 genomes]
rs2936011	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3002285	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs3010779	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.83[LWK][hapmap];0.90[TSI][hapmap]
rs3010780	1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap]
rs3010787	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs3010789	0.81[EUR][1000 genomes]
rs3124668	0.84[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs4655386	0.82[AMR][1000 genomes]
rs4951475	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4951476	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951478	0.81[EUR][1000 genomes]
rs4951479	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951677	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6419470	0.83[AMR][1000 genomes]
rs6540774	0.81[EUR][1000 genomes]
rs6540776	0.82[EUR][1000 genomes]
rs6540778	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540780	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540781	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6540782	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6658259	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666814	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6670025	0.82[ASN][1000 genomes]
rs6671872	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679510	0.92[EUR][1000 genomes]
rs6691488	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6692056	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693291	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6697921	0.80[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs6699158	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6700169	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7535369	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7547274	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9308430	0.83[AMR][1000 genomes]
rs9429901	0.82[AMR][1000 genomes]
rs9429902	0.82[AMR][1000 genomes]
rs9430118	0.83[AMR][1000 genomes]
rs9430120	0.81[AMR][1000 genomes]
rs9430121	0.82[AMR][1000 genomes]
rs9430122	0.81[AMR][1000 genomes]
rs9430123	0.84[AMR][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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6692144	ANGEL2	cis	cerebellum	SCAN
rs6692144	RPS6KC1	cis	Artery Tibial	GTEx
rs6692144	KCNH1	cis	cerebellum	SCAN
rs6692144	BATF3	cis	parietal	SCAN
rs6692144	ANGEL2	cis	parietal	SCAN
rs6692144	SNORA16B	cis	cerebellum	SCAN
rs6692144	ANGEL2	cis	Esophagus Mucosa	GTEx
rs6692144	ANGEL2	cis	Nerve Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269400-213308400	Weak transcription	Ovary	ovary
4	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:213281200-213309000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
12	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
15	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:213297400-213308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:213297800-213309200	Weak transcription	Fetal Heart	heart
23	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:213297800-213309600	Weak transcription	Gastric	stomach
25	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
27	chr1:213301000-213308200	Weak transcription	NHDF-Ad	bronchial
28	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:213301000-213374800	Weak transcription	HSMM	muscle
30	chr1:213301200-213309200	Weak transcription	K562	blood
31	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
32	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:213303000-213308000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:213303800-213309200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:213306000-213308000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:213306000-213308400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:213306000-213309200	Weak transcription	HepG2	liver
41	chr1:213306000-213311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:213306200-213309000	Weak transcription	NH-A	brain
43	chr1:213306200-213309400	Weak transcription	HSMMtube	muscle
44	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:213306400-213307600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:213306400-213308000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:213306400-213308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:213306600-213308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:213306800-213308400	Weak transcription	Brain Hippocampus Middle	brain

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