Variant report

Variant	rs73397663
Chromosome Location	chr12:105630579-105630580
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	ELK4	chr12:105629916-105630750	Hela-S3	cervix:	n/a	chr12:105630063-105630074 chr12:105630016-105630024 chr12:105630046-105630055 chr12:105630016-105630025 chr12:105630046-105630054
2	TCF12	chr12:105629836-105630649	A549	lung:	n/a	n/a
3	RAD21	chr12:105629016-105630689	IMR90	lung:	n/a	chr12:105629805-105629818
4	BCL3	chr12:105629823-105630623	A549	lung:	n/a	chr12:105630016-105630025 chr12:105629987-105629996
5	POLR2A	chr12:105628893-105630852	SK-N-SH	brain:	n/a	n/a
6	PML	chr12:105629622-105630705	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:105629035-105630737	IMR90	lung:	n/a	n/a
8	POLR2A	chr12:105628951-105630743	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:105628276-105630777	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:105629635-105630911	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr12:105630408-105630738	U87	brain:	n/a	n/a
12	FOSL2	chr12:105629899-105630777	A549	lung:	n/a	chr12:105630092-105630101
13	GABPA	chr12:105629776-105630589	A549	lung:	n/a	n/a
14	POLR2A	chr12:105629504-105630586	ECC-1	luminal epithelium:	n/a	n/a
15	E2F4	chr12:105629932-105630617	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:105628888-105630747	MCF10A-Er-Src	breast:	n/a	n/a
17	HCFC1	chr12:105628448-105630871	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr12:105629214-105630781	A549	lung:	n/a	chr12:105629568-105629577
19	POLR2A	chr12:105629071-105630765	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr12:105629760-105630640	SK-N-SH	brain:	n/a	n/a
21	MAX	chr12:105629143-105630671	A549	lung:	n/a	chr12:105629576-105629586 chr12:105629573-105629583 chr12:105629275-105629284
22	POLR2A	chr12:105629384-105630604	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr12:105629443-105630887	U87	brain:	n/a	n/a
24	RUNX3	chr12:105629813-105630752	GM12878	blood:	n/a	n/a
25	GABPA	chr12:105629590-105630789	MCF-7	breast:	n/a	n/a
26	CEBPB	chr12:105630333-105630679	IMR90	lung:	n/a	n/a
27	REST	chr12:105628966-105630622	H1-neurons	neurons:	n/a	chr12:105630090-105630100 chr12:105630149-105630163
28	MAX	chr12:105629749-105630580	A549	lung:	n/a	n/a
29	POLR2A	chr12:105630575-105630715	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:105629719-105630636	GM12891	blood:	n/a	n/a
31	E2F6	chr12:105629592-105630639	A549	lung:	n/a	n/a
32	POLR2A	chr12:105629235-105630892	U87	brain:	n/a	n/a
33	MXI1	chr12:105628916-105630642	IMR90	lung:	n/a	chr12:105630122-105630137
34	MAZ	chr12:105629011-105630697	IMR90	lung:	n/a	chr12:105629576-105629586 chr12:105629573-105629583 chr12:105629275-105629284
35	POLR2A	chr12:105629209-105630597	HUVEC	blood vessel:	n/a	n/a
36	RUNX3	chr12:105629895-105630648	GM12878	blood:	n/a	n/a
37	SPI1	chr12:105629771-105630603	GM12878	blood:	n/a	chr12:105630195-105630204 chr12:105630192-105630205 chr12:105629986-105629995 chr12:105630012-105630025

No.	Distal block	Cell Line	Cell type
1	chr12:104682529..104684202-chr12:105629338..105630884,2	MCF-7	breast:
2	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
3	chr12:105628750..105631438-chr12:105722608..105725285,3	MCF-7	breast:
4	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
5	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
6	chr12:105501540..105503183-chr12:105627693..105630661,2	MCF-7	breast:
7	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
8	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
9	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000198431	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1882148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61437377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73397685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399742	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73399757	1.00[AMR][1000 genomes]
rs73399760	1.00[AMR][1000 genomes]
rs73399763	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105627600-105630600	Active TSS	Aorta	Aorta
2	chr12:105628000-105630600	Active TSS	Colonic Mucosa	Colon
3	chr12:105628200-105630600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:105628200-105630800	Active TSS	GM12878-XiMat	blood
5	chr12:105628400-105630600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:105628400-105630600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105628400-105630600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:105628400-105630600	Active TSS	Fetal Intestine Small	intestine
9	chr12:105628400-105630600	Active TSS	Psoas Muscle	Psoas
10	chr12:105628400-105630600	Active TSS	Right Atrium	heart
11	chr12:105628400-105630600	Active TSS	HSMMtube	muscle
12	chr12:105628600-105630600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:105628600-105630600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:105628600-105630600	Active TSS	Ovary	ovary
15	chr12:105628600-105630600	Active TSS	Right Ventricle	heart
16	chr12:105628800-105630600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:105628800-105630600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:105628800-105630600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:105628800-105630800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:105628800-105630800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:105628800-105630800	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:105629000-105630600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:105629000-105630600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:105629000-105630600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:105629000-105630600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:105629000-105630600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:105629000-105630600	Active TSS	Brain Substantia Nigra	brain
28	chr12:105629000-105630600	Active TSS	Colon Smooth Muscle	Colon
29	chr12:105629000-105630600	Active TSS	Fetal Lung	lung
30	chr12:105629000-105630800	Active TSS	Brain Anterior Caudate	brain
31	chr12:105629200-105630600	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:105629200-105630600	Active TSS	Fetal Brain Female	brain
33	chr12:105629200-105630600	Active TSS	Placenta	Placenta
34	chr12:105629200-105630600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr12:105629200-105630600	Active TSS	Stomach Mucosa	stomach
36	chr12:105629400-105630600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:105629400-105630600	Active TSS	Fetal Kidney	kidney
38	chr12:105629600-105630600	Active TSS	Fetal Muscle Trunk	muscle
39	chr12:105629800-105630600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:105630000-105630600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:105630000-105630600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:105630200-105630600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:105630200-105630600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:105630200-105630600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:105630200-105630600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:105630200-105630600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr12:105630200-105630600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr12:105630200-105630600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:105630200-105630600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr12:105630200-105630600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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