Variant report

Variant	rs74156307
Chromosome Location	chr10:112624798-112624799
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	CREB1	chr10:112624326-112624856	GM12878	blood:	n/a	n/a
2	ZNF384	chr10:112624243-112625994	GM12878	blood:	n/a	n/a
3	RELA	chr10:112624366-112624890	GM19099	blood:	n/a	n/a
4	JUND	chr10:112624432-112624812	K562	blood:	n/a	n/a
5	NFIC	chr10:112624171-112624890	GM12878	blood:	n/a	n/a
6	MTA3	chr10:112624215-112624986	GM12878	blood:	n/a	n/a
7	SPI1	chr10:112624302-112624838	HL-60	blood:	n/a	chr10:112624522-112624535 chr10:112624523-112624532
8	EP300	chr10:112624320-112624804	GM12878	blood:	n/a	chr10:112624537-112624547
9	ATF2	chr10:112624159-112624829	GM12878	blood:	n/a	n/a
10	ZNF143	chr10:112624390-112624842	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:112623930-112626260	GM12891	blood:	n/a	n/a
12	POLR2A	chr10:112624420-112624853	Raji	blood:	n/a	n/a
13	RUNX3	chr10:112624208-112624845	GM12878	blood:	n/a	n/a
14	ELF1	chr10:112624288-112624863	GM12878	blood:	n/a	chr10:112624599-112624612
15	EP300	chr10:112624307-112624804	GM12878	blood:	n/a	chr10:112624537-112624547
16	RCOR1	chr10:112624400-112624899	GM12878	blood:	n/a	n/a
17	PML	chr10:112624100-112624876	GM12878	blood:	n/a	n/a
18	MXI1	chr10:112624388-112624929	GM12878	blood:	n/a	n/a
19	GATA1	chr10:112624361-112625495	PBDE	blood:	n/a	n/a
20	POLR2A	chr10:112624540-112624886	GM12892	blood:	n/a	n/a
21	FOXA2	chr10:112624117-112625048	HepG2	liver:	n/a	chr10:112625003-112625015 chr10:112624981-112624993
22	CUX1	chr10:112624338-112624894	GM12878	blood:	n/a	n/a
23	SP1	chr10:112624315-112624804	GM12878	blood:	n/a	n/a
24	TBP	chr10:112624355-112624805	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:112624647-112624843	GM12878	blood:	n/a	n/a
26	MAZ	chr10:112624246-112624857	GM12878	blood:	n/a	n/a
27	WRNIP1	chr10:112624466-112624848	GM12878	blood:	n/a	n/a
28	NFIC	chr10:112623956-112624924	GM12878	blood:	n/a	n/a
29	FOXA2	chr10:112624491-112624890	A549	lung:	n/a	n/a
30	MAX	chr10:112624361-112624823	NB4	blood:	n/a	n/a
31	FOXA1	chr10:112624382-112624854	HepG2	liver:	n/a	n/a
32	ELK1	chr10:112624398-112624798	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:112624429-112624867	GM12878	blood:	n/a	n/a
34	ELF1	chr10:112624344-112624809	K562	blood:	n/a	chr10:112624599-112624612
35	TBL1XR1	chr10:112624275-112624833	GM12878	blood:	n/a	n/a
36	MAX	chr10:112624381-112624867	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:112624474-112624957	GM12892	blood:	n/a	n/a
38	EBF1	chr10:112624374-112624897	GM12878	blood:	n/a	n/a
39	IRF1	chr10:112624419-112624808	K562	blood:	n/a	chr10:112624637-112624647 chr10:112624635-112624649 chr10:112624635-112624646 chr10:112624633-112624647 chr10:112624636-112624649 chr10:112624636-112624649 chr10:112624637-112624651
40	FOXM1	chr10:112624283-112624896	GM12878	blood:	n/a	n/a
41	FOXA1	chr10:112624415-112624810	HepG2	liver:	n/a	n/a
42	FOXA1	chr10:112624393-112624874	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:112619976..112621835-chr10:112622055..112625024,2	MCF-7	breast:
2	chr10:112589697..112592145-chr10:112622610..112625288,3	MCF-7	breast:
3	chr10:112610748..112613703-chr10:112623981..112626805,2	MCF-7	breast:
4	chr10:112532259..112533809-chr10:112624072..112626990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232470	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11195368	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195373	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195376	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195409	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11592186	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11592376	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593462	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593479	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11593592	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593866	0.82[EUR][1000 genomes]
rs11597120	0.92[EUR][1000 genomes]
rs11597460	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11597928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812232	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11812855	0.92[EUR][1000 genomes]
rs11813262	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813593	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814418	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11814686	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816033	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11816247	0.92[EUR][1000 genomes]
rs11816269	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11816396	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11818060	0.92[EUR][1000 genomes]
rs11818747	0.92[EUR][1000 genomes]
rs11818761	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11818771	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11818869	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781566	1.00[ASN][1000 genomes]
rs1322997	1.00[EUR][1000 genomes]
rs1327556	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1535559	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128189	0.92[EUR][1000 genomes]
rs1885796	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647014	0.97[EUR][1000 genomes]
rs55858908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60633872	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs60681723	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877808	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469604	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585018	1.00[EUR][1000 genomes]
rs6585020	0.97[EUR][1000 genomes]
rs7081726	0.92[EUR][1000 genomes]
rs74156303	1.00[ASN][1000 genomes]
rs74156304	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74156305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156308	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156309	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156311	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156320	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74156323	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7923004	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112611200-112630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:112617000-112628600	Enhancers	Placenta	Placenta
3	chr10:112617800-112630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:112618400-112630800	Enhancers	Fetal Thymus	thymus
5	chr10:112619400-112624800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:112619800-112627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:112620000-112624800	Weak transcription	Psoas Muscle	Psoas
8	chr10:112621000-112625200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:112621000-112630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:112621000-112631000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:112621200-112630400	Weak transcription	Gastric	stomach
12	chr10:112621200-112630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:112621200-112630600	Weak transcription	Brain Substantia Nigra	brain
14	chr10:112621800-112628600	Enhancers	Fetal Muscle Leg	muscle
15	chr10:112622000-112626200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:112622000-112628400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:112622200-112626400	Enhancers	Fetal Stomach	stomach
18	chr10:112622200-112628400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr10:112623000-112630600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:112623200-112628200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr10:112623400-112627600	Enhancers	Fetal Intestine Small	intestine
22	chr10:112623400-112631000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:112623600-112627400	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:112623800-112624800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:112623800-112626000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:112623800-112626200	Enhancers	Fetal Lung	lung
27	chr10:112623800-112628400	Enhancers	Small Intestine	intestine
28	chr10:112624000-112625200	Weak transcription	Spleen	Spleen
29	chr10:112624000-112626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:112624000-112626200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:112624000-112627800	Enhancers	Fetal Intestine Large	intestine
32	chr10:112624000-112627800	Enhancers	Stomach Mucosa	stomach
33	chr10:112624000-112630600	Weak transcription	Lung	lung
34	chr10:112624200-112624800	Enhancers	Brain Germinal Matrix	brain
35	chr10:112624200-112625000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr10:112624200-112625000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:112624200-112625200	Flanking Active TSS	Thymus	Thymus
38	chr10:112624200-112626000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr10:112624200-112626400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:112624200-112628200	Enhancers	HSMM	muscle
41	chr10:112624400-112624800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:112624400-112624800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:112624400-112624800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr10:112624400-112624800	Flanking Active TSS	Liver	Liver
45	chr10:112624400-112624800	Enhancers	Brain Angular Gyrus	brain
46	chr10:112624400-112624800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr10:112624400-112624800	Enhancers	Dnd41	blood
48	chr10:112624400-112624800	Active TSS	GM12878-XiMat	blood
49	chr10:112624400-112624800	Flanking Active TSS	K562	blood
50	chr10:112624400-112625000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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