Variant report

Variant	rs6703511
Chromosome Location	chr1:175955216-175955217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10218714	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10436856	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10494495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753112	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753117	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10753118	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10798422	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798425	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798434	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798442	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10798444	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913120	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913124	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913131	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10913132	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12023976	0.83[EUR][1000 genomes]
rs12029090	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12033847	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12033976	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12066926	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12404596	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12735810	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17351562	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35846379	0.81[EUR][1000 genomes]
rs4409605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6680839	0.84[ASN][1000 genomes]
rs6688898	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6693299	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7515914	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527463	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7534058	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7534948	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
2	chr1:175906400-175962600	Weak transcription	NH-A	brain
3	chr1:175908000-175959400	Weak transcription	NHEK	skin
4	chr1:175946000-175996000	Weak transcription	HMEC	breast
5	chr1:175948200-175957400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:175948200-175961400	Weak transcription	NHLF	lung
7	chr1:175949200-175958600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:175949200-175958600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:175949400-175957000	Weak transcription	Osteobl	bone
10	chr1:175950000-175961200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:175950200-175955400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:175950200-175956400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:175951200-175957600	Strong transcription	HSMM	muscle
14	chr1:175951600-175956200	Strong transcription	Hela-S3	cervix
15	chr1:175951600-175958600	Weak transcription	Fetal Heart	heart
16	chr1:175951800-175956000	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:175952000-175958000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:175952600-175958800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:175953000-175958000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:175953000-175958200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:175953200-175960000	Weak transcription	Fetal Brain Male	brain
22	chr1:175953400-175957400	Strong transcription	NHDF-Ad	bronchial
23	chr1:175953600-175958600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:175953600-175960800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:175953800-175956200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:175953800-175956200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:175953800-175956400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:175953800-175957600	Weak transcription	Right Ventricle	heart
29	chr1:175953800-175958000	Strong transcription	Fetal Thymus	thymus
30	chr1:175953800-175958400	Weak transcription	Small Intestine	intestine
31	chr1:175953800-175958600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:175953800-175958600	Strong transcription	Adipose Nuclei	Adipose
33	chr1:175953800-175958800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:175953800-175959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:175953800-175959000	Weak transcription	HUVEC	blood vessel
36	chr1:175953800-175961000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:175953800-175962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
39	chr1:175954000-175955600	Weak transcription	Fetal Kidney	kidney
40	chr1:175954000-175956000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:175954000-175957000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:175954000-175957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:175954000-175958000	Strong transcription	Primary T cells from cord blood	blood
44	chr1:175954000-175958200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:175954000-175958400	Strong transcription	Placenta	Placenta
46	chr1:175954000-175958600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:175954000-175958600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:175954000-175958600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:175954000-175958600	Strong transcription	Ovary	ovary
50	chr1:175954000-175958800	Weak transcription	Brain Cingulate Gyrus	brain

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