Variant report

Variant	rs10913133
Chromosome Location	chr1:176072002-176072003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176071649..176074006-chr1:176077683..176079750,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10218714	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10753112	0.81[AMR][1000 genomes]
rs10753117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10753118	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10798442	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10798444	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10798446	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798447	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10913120	0.81[AMR][1000 genomes]
rs10913124	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913131	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10913132	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913142	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913143	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913144	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913145	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913147	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913148	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029090	0.81[EUR][1000 genomes]
rs12033847	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12033997	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12034255	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12039741	0.81[EUR][1000 genomes]
rs12042918	0.81[EUR][1000 genomes]
rs12047295	0.81[EUR][1000 genomes]
rs12049077	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12404596	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12409108	0.81[EUR][1000 genomes]
rs12735810	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12755507	0.81[EUR][1000 genomes]
rs17354120	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2175177	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2861672	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34215167	0.81[EUR][1000 genomes]
rs34511428	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3748618	0.81[EUR][1000 genomes]
rs6673760	0.83[EUR][1000 genomes]
rs6678628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6678812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684140	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7514517	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515914	0.81[AMR][1000 genomes]
rs7517503	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7522843	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7534058	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7534948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7553759	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
2	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:176048800-176107000	Weak transcription	HepG2	liver
4	chr1:176054400-176131600	Weak transcription	NH-A	brain
5	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
6	chr1:176061200-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:176064400-176072800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr1:176064400-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:176064600-176072800	ZNF genes & repeats	Liver	Liver
10	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
11	chr1:176066000-176081800	Weak transcription	GM12878-XiMat	blood
12	chr1:176068000-176075000	Weak transcription	HSMM	muscle
13	chr1:176068400-176072800	Strong transcription	Dnd41	blood
14	chr1:176068400-176079200	Weak transcription	Fetal Heart	heart
15	chr1:176068600-176072400	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr1:176068600-176077000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:176068600-176087600	Weak transcription	NHLF	lung
18	chr1:176068800-176072600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:176068800-176072800	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr1:176069000-176072400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:176069000-176080800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
23	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:176069200-176072200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:176069200-176072200	Weak transcription	NHDF-Ad	bronchial
27	chr1:176069200-176082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:176069200-176084400	Weak transcription	Psoas Muscle	Psoas
29	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
30	chr1:176069200-176123200	Weak transcription	Osteobl	bone
31	chr1:176069200-176126600	Weak transcription	HMEC	breast
32	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
33	chr1:176069400-176072200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:176069400-176072800	Strong transcription	Fetal Thymus	thymus
35	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:176069800-176077800	Weak transcription	Stomach Mucosa	stomach
37	chr1:176070000-176072200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:176070000-176075000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:176070200-176074800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:176070200-176081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:176070400-176072200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:176070400-176072200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:176070400-176072400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:176070400-176074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:176070400-176075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:176070400-176080800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:176070400-176082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:176070400-176082800	Weak transcription	K562	blood
50	chr1:176070400-176083200	Weak transcription	Colonic Mucosa	Colon

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