Variant report

Variant	rs7173046
Chromosome Location	chr15:45813087-45813088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:45813029-45815801	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45800845..45803632-chr15:45812326..45814076,2	K562	blood:
2	chr15:45810648..45813150-chr15:45813596..45817925,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf48-1	chr15:45813075-45813223	NONHSAT042265

Variant related genes	Relation type
HMGN2P46	TF binding region
ENSG00000179362	Chromatin interaction
ENSG00000104154	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10152775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152792	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153841	1.00[MEX][hapmap]
rs1288849	1.00[MEX][hapmap]
rs1288864	0.84[AMR][1000 genomes]
rs13376	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1442797	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1529353	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1529354	0.83[ASW][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1547488	1.00[MEX][hapmap]
rs1547489	1.00[MEX][hapmap]
rs1547490	1.00[MEX][hapmap]
rs1559892	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1629871	1.00[MEX][hapmap]
rs16943587	0.84[AMR][1000 genomes]
rs16943691	0.84[AMR][1000 genomes]
rs16944196	1.00[ASW][hapmap];1.00[CHD][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16944305	0.83[ASW][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945588	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs16945605	0.93[AMR][1000 genomes]
rs1970374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120016	0.89[YRI][hapmap]
rs2412958	0.92[AMR][1000 genomes]
rs2433623	0.84[AMR][1000 genomes]
rs2467874	1.00[MEX][hapmap]
rs2467875	1.00[MEX][hapmap]
rs2467880	0.84[AMR][1000 genomes]
rs2486283	0.84[AMR][1000 genomes]
rs3858908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4598849	0.86[AMR][1000 genomes]
rs57255527	0.84[AMR][1000 genomes]
rs57263027	0.93[AMR][1000 genomes]
rs57421622	0.84[AMR][1000 genomes]
rs57668312	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58055978	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58078831	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58694071	0.84[AMR][1000 genomes]
rs60561729	0.86[AMR][1000 genomes]
rs61169737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61186343	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61500896	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61756712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493153	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493159	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs679569	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs7163098	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166434	0.83[ASW][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168313	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7168672	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170941	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183382	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs719018	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs719019	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs73410577	0.84[AMR][1000 genomes]
rs73412436	0.84[AMR][1000 genomes]
rs73412437	0.84[AMR][1000 genomes]
rs73412438	0.84[AMR][1000 genomes]
rs73412443	0.84[AMR][1000 genomes]
rs73412445	0.84[AMR][1000 genomes]
rs73412447	0.84[AMR][1000 genomes]
rs73412449	0.84[AMR][1000 genomes]
rs73412452	0.84[AMR][1000 genomes]
rs73412453	0.84[AMR][1000 genomes]
rs73412454	0.84[AMR][1000 genomes]
rs73412456	0.84[AMR][1000 genomes]
rs73412457	0.84[AMR][1000 genomes]
rs73412459	0.84[AMR][1000 genomes]
rs73412460	0.84[AMR][1000 genomes]
rs73412462	0.84[AMR][1000 genomes]
rs73412463	0.84[AMR][1000 genomes]
rs73412467	0.84[AMR][1000 genomes]
rs73412470	0.84[AMR][1000 genomes]
rs73412479	0.92[AMR][1000 genomes]
rs73412484	0.92[AMR][1000 genomes]
rs73412488	0.92[AMR][1000 genomes]
rs73412490	0.92[AMR][1000 genomes]
rs73414454	0.92[AMR][1000 genomes]
rs73414486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416484	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416493	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418308	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418310	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418311	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418314	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418316	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418320	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418387	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418395	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73418401	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420403	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420405	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420406	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420408	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420409	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420412	1.00[EUR][1000 genomes]
rs73420415	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73420427	0.86[AMR][1000 genomes]
rs73420437	0.86[AMR][1000 genomes]
rs73420438	0.86[AMR][1000 genomes]
rs73420456	0.86[AMR][1000 genomes]
rs7342662	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7495403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs751819	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8025600	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8027324	0.86[AMR][1000 genomes]
rs8029983	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8034420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8042179	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042662	0.86[AMR][1000 genomes]
rs9672808	0.84[AMR][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	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
2	chr15:45771000-45813400	Weak transcription	Right Ventricle	heart
3	chr15:45771200-45814000	Weak transcription	Placenta	Placenta
4	chr15:45773200-45814000	Weak transcription	Pancreas	Pancrea
5	chr15:45792200-45813600	Weak transcription	HUVEC	blood vessel
6	chr15:45792200-45813600	Weak transcription	NH-A	brain
7	chr15:45792600-45813200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:45797800-45813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:45798600-45813400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:45800800-45813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:45802200-45813200	Weak transcription	Primary T cells from cord blood	blood
12	chr15:45802200-45813800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:45802400-45813600	Weak transcription	Esophagus	oesophagus
14	chr15:45802400-45813600	Weak transcription	Ovary	ovary
15	chr15:45802400-45813800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:45802400-45814000	Weak transcription	Gastric	stomach
17	chr15:45802400-45814000	Weak transcription	Lung	lung
18	chr15:45803400-45813600	Weak transcription	HSMMtube	muscle
19	chr15:45804800-45813600	Weak transcription	Left Ventricle	heart
20	chr15:45805000-45813600	Weak transcription	Colonic Mucosa	Colon
21	chr15:45808600-45813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:45809200-45813200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:45809600-45813800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:45810000-45813200	Weak transcription	Hela-S3	cervix
25	chr15:45810600-45813200	Weak transcription	Right Atrium	heart
26	chr15:45811000-45813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:45811000-45814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:45811200-45813200	Weak transcription	Fetal Stomach	stomach
29	chr15:45811600-45813600	Enhancers	Primary B cells from peripheral blood	blood
30	chr15:45811800-45813600	Enhancers	Brain Substantia Nigra	brain
31	chr15:45812600-45813200	Enhancers	Small Intestine	intestine
32	chr15:45812600-45813400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr15:45812600-45813600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:45812600-45813600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:45812800-45813200	Active TSS	Brain Angular Gyrus	brain
36	chr15:45812800-45813200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr15:45812800-45813200	Enhancers	NHDF-Ad	bronchial
38	chr15:45812800-45813400	Enhancers	Primary B cells from cord blood	blood
39	chr15:45812800-45813400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:45812800-45813400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45812800-45813400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:45812800-45813600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:45812800-45813600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:45812800-45813600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr15:45812800-45813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:45812800-45813600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:45812800-45813600	Enhancers	Liver	Liver
48	chr15:45812800-45813600	Enhancers	Fetal Intestine Small	intestine
49	chr15:45812800-45813600	Enhancers	Fetal Lung	lung
50	chr15:45812800-45813600	Enhancers	Fetal Muscle Leg	muscle

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