Variant report

Variant	rs10757686
Chromosome Location	chr9:2787856-2787857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2787135..2789034-chr9:2791407..2793364,2	K562	blood:
2	chr9:2787061..2789950-chr9:2798613..2800282,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10046804	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10113893	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10122155	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10122896	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10125062	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10125412	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10738776	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10738780	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10757691	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10812641	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2375862	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4741766	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6476000	0.84[EUR][1000 genomes]
rs6476023	0.81[ASN][1000 genomes]
rs7032942	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7033946	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7037204	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7049072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865866	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892079	chr9:2681430-2931341	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv516425	chr9:2690980-2790307	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv892081	chr9:2691186-2851026	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1032667	chr9:2691667-2788242	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1019973	chr9:2691812-2790419	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv539935	chr9:2691812-2790419	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892082	chr9:2699606-2833267	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv1021572	chr9:2703159-2790123	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv1023850	chr9:2736931-2790123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv466087	chr9:2746548-2790307	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv613142	chr9:2746548-2790307	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1028011	chr9:2759097-2904277	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv1022873	chr9:2768825-2863264	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv1032474	chr9:2773573-2804799	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10757686	RPL13	trans	cerebellum	SCAN
rs10757686	KIAA0020	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2765800-2791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:2770600-2789800	Weak transcription	Hela-S3	cervix
3	chr9:2775000-2801600	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:2777200-2790800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:2777800-2791600	Weak transcription	Right Ventricle	heart
6	chr9:2777800-2800000	Weak transcription	Colonic Mucosa	Colon
7	chr9:2778000-2788400	Weak transcription	Lung	lung
8	chr9:2778000-2789400	Weak transcription	Fetal Intestine Large	intestine
9	chr9:2778000-2790000	Strong transcription	A549	lung
10	chr9:2778000-2790800	Weak transcription	Esophagus	oesophagus
11	chr9:2778000-2790800	Weak transcription	Pancreas	Pancrea
12	chr9:2778000-2790800	Weak transcription	Thymus	Thymus
13	chr9:2778000-2791000	Weak transcription	Spleen	Spleen
14	chr9:2778000-2794400	Weak transcription	Psoas Muscle	Psoas
15	chr9:2778000-2801600	Weak transcription	Small Intestine	intestine
16	chr9:2778000-2801800	Weak transcription	Gastric	stomach
17	chr9:2778000-2803200	Weak transcription	Aorta	Aorta
18	chr9:2778200-2789200	Weak transcription	Fetal Thymus	thymus
19	chr9:2778400-2791000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:2778400-2800200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:2778600-2788000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:2778600-2789400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:2778600-2789400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:2778600-2790000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr9:2778600-2801400	Weak transcription	Fetal Brain Male	brain
26	chr9:2778600-2801600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:2778800-2789400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:2778800-2790800	Weak transcription	HepG2	liver
29	chr9:2778800-2791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:2778800-2791000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:2778800-2791200	Weak transcription	Brain Anterior Caudate	brain
32	chr9:2778800-2798200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:2778800-2799600	Weak transcription	Brain Angular Gyrus	brain
34	chr9:2778800-2800000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:2778800-2802800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:2779000-2789000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr9:2779000-2790800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr9:2779200-2788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:2779200-2801600	Weak transcription	Brain Substantia Nigra	brain
40	chr9:2779400-2791200	Weak transcription	NHDF-Ad	bronchial
41	chr9:2780400-2789400	Weak transcription	HSMMtube	muscle
42	chr9:2781200-2788400	Weak transcription	HUVEC	blood vessel
43	chr9:2781200-2790000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:2781400-2788800	Weak transcription	K562	blood
45	chr9:2782400-2800800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:2783200-2788200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr9:2783200-2798800	Weak transcription	Fetal Kidney	kidney
48	chr9:2783400-2790800	Strong transcription	HSMM	muscle
49	chr9:2783600-2788400	Weak transcription	Fetal Stomach	stomach
50	chr9:2783600-2790000	Weak transcription	Left Ventricle	heart

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