Variant report

Variant	rs4918610
Chromosome Location	chr10:112674879-112674880
allele	C/T
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	PAX5	chr10:112674805-112675147	GM12878	blood:	n/a	chr10:112674940-112674959
2	RUNX3	chr10:112674846-112675156	GM12878	blood:	n/a	n/a
3	PAX5	chr10:112674831-112675136	GM12891	blood:	n/a	chr10:112674940-112674959
4	PAX5	chr10:112674739-112675171	GM12878	blood:	n/a	chr10:112674940-112674959 chr10:112674768-112674777
5	ZNF384	chr10:112674673-112675093	GM12878	blood:	n/a	n/a
6	PAX5	chr10:112674670-112675117	GM12878	blood:	n/a	chr10:112674940-112674959 chr10:112674768-112674777
7	PAX5	chr10:112674860-112675082	GM12878	blood:	n/a	chr10:112674940-112674959
8	PAX5	chr10:112674761-112675075	GM12891	blood:	n/a	chr10:112674940-112674959 chr10:112674768-112674777
9	MAFK	chr10:112674879-112674908	HepG2	liver:	n/a	chr10:112674891-112674906
10	RUNX3	chr10:112674748-112675177	GM12878	blood:	n/a	n/a
11	PAX5	chr10:112674844-112675096	GM12892	blood:	n/a	chr10:112674940-112674959
12	PAX5	chr10:112674760-112675062	GM12892	blood:	n/a	chr10:112674940-112674959 chr10:112674768-112674777

No.	Distal block	Cell Line	Cell type
1	chr10:112630811..112632732-chr10:112674433..112677282,2	MCF-7	breast:
2	chr10:112664477..112666124-chr10:112672984..112675252,2	MCF-7	breast:
3	chr10:112674469..112676467-chr10:112682568..112686399,3	K562	blood:
4	chr10:112655149..112659014-chr10:112672959..112676175,3	K562	blood:
5	chr10:112629697..112632003-chr10:112674441..112676837,2	MCF-7	breast:
6	chr10:112673558..112675632-chr10:112697119..112699453,2	K562	blood:

Variant related genes	Relation type
SHOC2	TF binding region
ENSG00000150593	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000265827	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11195357	0.83[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11195378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11195384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195386	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11195389	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11195392	0.94[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11195393	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12240492	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12244153	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12244273	0.86[AFR][1000 genomes]
rs12245003	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12248431	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12248632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12248739	0.85[CHB][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12249521	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12249906	0.83[AFR][1000 genomes]
rs12255335	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12256152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12258923	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12266042	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12267661	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12268160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12268606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327552	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13306146	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1341055	0.86[AMR][1000 genomes]
rs1410052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1538998	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128099	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128102	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128270	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800038	0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap]
rs3750621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4917593	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918620	0.82[ASN][1000 genomes]
rs55879225	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56005122	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56302131	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56350255	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9804245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678000	Weak transcription	Lung	lung
2	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
3	chr10:112634800-112677400	Weak transcription	HUVEC	blood vessel
4	chr10:112644200-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:112644800-112675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:112646400-112676400	Weak transcription	K562	blood
7	chr10:112647200-112677400	Weak transcription	Fetal Brain Male	brain
8	chr10:112656200-112677400	Weak transcription	Stomach Mucosa	stomach
9	chr10:112656400-112676400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:112656400-112677600	Weak transcription	Right Ventricle	heart
11	chr10:112657200-112675000	Weak transcription	Ovary	ovary
12	chr10:112657400-112677600	Weak transcription	Psoas Muscle	Psoas
13	chr10:112657400-112677600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:112657400-112677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:112657400-112677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:112657400-112678000	Weak transcription	Gastric	stomach
17	chr10:112657600-112677600	Weak transcription	Fetal Brain Female	brain
18	chr10:112659200-112676400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:112659400-112677600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:112659600-112677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:112659800-112675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:112660200-112676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:112660400-112675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:112660400-112676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr10:112660400-112677000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:112660600-112677200	Weak transcription	Dnd41	blood
27	chr10:112661000-112677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:112661000-112677200	Weak transcription	Fetal Intestine Large	intestine
29	chr10:112661200-112676400	Weak transcription	Aorta	Aorta
30	chr10:112661600-112677600	Weak transcription	Brain Germinal Matrix	brain
31	chr10:112661800-112675000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:112661800-112676000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:112662000-112676000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:112662200-112675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:112662200-112676400	Weak transcription	Adipose Nuclei	Adipose
36	chr10:112662200-112677200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:112662400-112676200	Weak transcription	Liver	Liver
38	chr10:112662400-112676400	Weak transcription	Fetal Kidney	kidney
39	chr10:112662400-112676600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:112663000-112676000	Weak transcription	A549	lung
41	chr10:112663200-112677000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:112663400-112675600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:112663400-112676200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:112663400-112678000	Weak transcription	Left Ventricle	heart
45	chr10:112663600-112676000	Weak transcription	Brain Angular Gyrus	brain
46	chr10:112663600-112677400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:112663600-112677600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr10:112663800-112675200	Weak transcription	Hela-S3	cervix
49	chr10:112663800-112677600	Weak transcription	Brain Substantia Nigra	brain
50	chr10:112663800-112677800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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