Variant report

Variant	rs7168672
Chromosome Location	chr15:45815492-45815493
allele	A/C
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	TCF12	chr15:45814595-45815531	ECC-1	luminal epithelium:	n/a	n/a
2	NRF1	chr15:45814830-45815501	GM12878	blood:	n/a	chr15:45815012-45815023 chr15:45814919-45814928 chr15:45815012-45815026 chr15:45814837-45814846
3	GATA3	chr15:45814740-45815535	T-47D	breast:	n/a	n/a
4	MXI1	chr15:45813029-45815801	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr15:45813926-45815717	IMR90	lung:	n/a	n/a
6	HA-E2F1	chr15:45814163-45815498	MCF-7	breast:	n/a	chr15:45814695-45814702 chr15:45814919-45814928 chr15:45814834-45814846 chr15:45815257-45815267 chr15:45814837-45814846 chr15:45815013-45815022 chr15:45814695-45814706 chr15:45814695-45814706
7	MAFF	chr15:45815307-45815566	HepG2	liver:	n/a	n/a
8	MAX	chr15:45814247-45815572	A549	lung:	n/a	chr15:45815008-45815017
9	NRF1	chr15:45814583-45815738	SK-N-SH	brain:	n/a	chr15:45815012-45815023 chr15:45814919-45814928 chr15:45815012-45815026 chr15:45814837-45814846
10	MAZ	chr15:45813915-45815717	IMR90	lung:	n/a	chr15:45815008-45815017
11	MAX	chr15:45814261-45815553	ECC-1	luminal epithelium:	n/a	chr15:45815008-45815017
12	ZBTB7A	chr15:45814445-45815563	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr15:45814437-45815503	H1-neurons	neurons:	n/a	n/a
14	E2F4	chr15:45815377-45815766	MCF10A-Er-Src	breast:	n/a	n/a
15	MAFK	chr15:45815302-45815634	HepG2	liver:	n/a	chr15:45815472-45815483 chr15:45815468-45815484
16	MAX	chr15:45814304-45815499	SK-N-SH	brain:	n/a	chr15:45815008-45815017
17	MAX	chr15:45814376-45815602	ECC-1	luminal epithelium:	n/a	chr15:45815008-45815017
18	MAFK	chr15:45815314-45815619	IMR90	lung:	n/a	chr15:45815472-45815483 chr15:45815468-45815484
19	FOXA1	chr15:45815346-45815625	T-47D	breast:	n/a	n/a
20	E2F6	chr15:45814378-45815509	K562	blood:	n/a	chr15:45814695-45814702 chr15:45814919-45814928 chr15:45814834-45814846 chr15:45815257-45815267 chr15:45814837-45814846 chr15:45815013-45815022 chr15:45814695-45814706 chr15:45814695-45814706

No.	Distal block	Cell Line	Cell type
1	chr15:45813492..45816353-chr15:45876550..45880712,4	MCF-7	breast:
2	chr15:45801393..45804941-chr15:45813631..45816253,3	MCF-7	breast:
3	chr15:45813395..45816326-chr15:45879088..45881474,2	MCF-7	breast:
4	chr15:45815036..45815573-chr15:45903214..45904130,2	MCF-7	breast:

Variant related genes	Relation type
SLC30A4	TF binding region
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000179362	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]
rs7170941	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173046	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]
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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45813200-45815800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:45813200-45815800	Active TSS	Right Atrium	heart
3	chr15:45813400-45815600	Active TSS	Right Ventricle	heart
4	chr15:45813400-45815800	Active TSS	NHDF-Ad	bronchial
5	chr15:45813600-45815600	Active TSS	Esophagus	oesophagus
6	chr15:45813600-45815600	Active TSS	Left Ventricle	heart
7	chr15:45813600-45815600	Active TSS	Ovary	ovary
8	chr15:45813600-45815600	Active TSS	Psoas Muscle	Psoas
9	chr15:45813800-45815600	Active TSS	Brain Hippocampus Middle	brain
10	chr15:45813800-45815600	Active TSS	Colon Smooth Muscle	Colon
11	chr15:45813800-45815600	Active TSS	HSMMtube	muscle
12	chr15:45813800-45815800	Active TSS	Fetal Muscle Trunk	muscle
13	chr15:45813800-45815800	Active TSS	Stomach Smooth Muscle	stomach
14	chr15:45814000-45815600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:45814000-45815600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr15:45814000-45815600	Active TSS	Fetal Stomach	stomach
17	chr15:45814000-45815600	Active TSS	Lung	lung
18	chr15:45814000-45815600	Flanking Bivalent TSS/Enh	Dnd41	blood
19	chr15:45814000-45815800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:45814000-45815800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:45814200-45815600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr15:45814200-45815600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:45814200-45815600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:45814200-45815600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:45814200-45815600	Active TSS	Brain Substantia Nigra	brain
26	chr15:45814200-45815600	Active TSS	Osteobl	bone
27	chr15:45814200-45815800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:45814200-45815800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr15:45814200-45815800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:45814200-45815800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:45814200-45816000	Active TSS	Rectal Smooth Muscle	rectum
32	chr15:45814400-45815600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr15:45814400-45815600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:45814400-45815600	Bivalent/Poised TSS	Fetal Thymus	thymus
35	chr15:45814400-45815800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:45814400-45815800	Active TSS	Primary T cells from cord blood	blood
37	chr15:45814400-45815800	Active TSS	Fetal Lung	lung
38	chr15:45814400-45816000	Active TSS	NH-A	brain
39	chr15:45814600-45815600	Active TSS	Primary B cells from cord blood	blood
40	chr15:45814600-45815600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:45814600-45815600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:45814600-45815600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:45814800-45815600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:45815000-45815600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:45815200-45815600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:45815200-45815600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:45815200-45815600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr15:45815200-45815600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr15:45815200-45815600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr15:45815200-45815600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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