Variant report

Variant	rs13240361
Chromosome Location	chr7:56128911-56128912
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	MAFF	chr7:56128686-56128946	K562	blood:	n/a	chr7:56128807-56128825
2	MAFK	chr7:56128658-56128990	K562	blood:	n/a	n/a
3	POLR2A	chr7:56128521-56129366	PANC-1	pancreas:	n/a	n/a
4	MAFF	chr7:56128634-56128944	HepG2	liver:	n/a	chr7:56128807-56128825
5	MAFK	chr7:56128636-56128980	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:56128604-56128990	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:56128823-56129023	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr7:56125587-56130729	K562	blood:	n/a	n/a
9	TBL1XR1	chr7:56128754-56129034	K562	blood:	n/a	n/a
10	POLR2A	chr7:56128545-56129080	HepG2	liver:	n/a	n/a
11	MAFK	chr7:56128534-56129007	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56128361..56131760-chr7:56167519..56170434,3	K562	blood:
2	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
3	chr7:56126631..56129395-chr7:56129953..56133299,4	MCF-7	breast:

Variant related genes	Relation type
CCT6A	TF binding region
SUMF2	TF binding region
ENSG00000146733	Chromatin interaction
ENSG00000238673	Chromatin interaction
ENSG00000206603	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10085802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241628	1.00[TSI][hapmap]
rs10253539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253680	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222682	0.88[TSI][hapmap]
rs13223519	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232704	0.80[EUR][1000 genomes]
rs13233037	0.80[EUR][1000 genomes]
rs13233834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238029	1.00[EUR][1000 genomes]
rs13238083	0.80[EUR][1000 genomes]
rs13241531	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247558	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013197	0.81[ASN][1000 genomes]
rs2304375	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2331184	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33922584	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023503	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34154824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34319969	1.00[ASN][1000 genomes]
rs34334997	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573211	0.96[EUR][1000 genomes]
rs34822782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34885337	1.00[ASW][hapmap]
rs35007015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033933	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35058595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102507	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35103810	1.00[TSI][hapmap]
rs35136814	0.92[ASN][1000 genomes]
rs35347055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35506072	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35509657	1.00[TSI][hapmap]
rs35515485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818005	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35881493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049923	1.00[ASN][1000 genomes]
rs36148650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778868	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3816089	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs4307293	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs4947531	0.82[ASN][1000 genomes]
rs4948089	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4948101	0.92[ASN][1000 genomes]
rs6962038	1.00[TSI][hapmap]
rs71543774	0.80[EUR][1000 genomes]
rs71543775	0.92[ASN][1000 genomes]
rs71543776	0.89[ASN][1000 genomes]
rs71543777	0.92[ASN][1000 genomes]
rs71543786	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126344	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs816219	0.83[ASN][1000 genomes]
rs816242	0.96[ASN][1000 genomes]
rs816412	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816413	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816415	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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 lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv981474	chr7:56127123-56131412	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56120200-56131200	Weak transcription	Aorta	Aorta
2	chr7:56120600-56131000	Strong transcription	Adipose Nuclei	Adipose
3	chr7:56120800-56130000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:56120800-56130400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:56120800-56130800	Strong transcription	Brain Angular Gyrus	brain
6	chr7:56120800-56131200	Strong transcription	Fetal Thymus	thymus
7	chr7:56120800-56131400	Strong transcription	Fetal Muscle Leg	muscle
8	chr7:56120800-56131600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:56121000-56130000	Weak transcription	Stomach Mucosa	stomach
10	chr7:56121000-56130800	Strong transcription	Fetal Lung	lung
11	chr7:56121000-56131000	Strong transcription	Brain Anterior Caudate	brain
12	chr7:56121000-56131200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:56121000-56131200	Strong transcription	Brain Hippocampus Middle	brain
14	chr7:56121200-56129400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:56121200-56129400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:56121200-56129400	Strong transcription	Osteobl	bone
17	chr7:56121200-56130400	Strong transcription	Liver	Liver
18	chr7:56121200-56130600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:56121200-56130800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr7:56121200-56130800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:56121200-56131200	Strong transcription	Brain Germinal Matrix	brain
22	chr7:56121200-56131200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:56121200-56131400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:56121200-56131400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:56121400-56129000	Genic enhancers	HepG2	liver
26	chr7:56121400-56129400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:56121400-56129800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:56121400-56130600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:56121400-56130800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr7:56121400-56130800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:56121400-56130800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:56121400-56131000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr7:56121400-56131000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:56121400-56131000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:56121400-56131200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:56121400-56131200	Strong transcription	Placenta	Placenta
37	chr7:56121400-56131200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:56121400-56131200	Genic enhancers	Dnd41	blood
39	chr7:56121400-56131400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:56121400-56131400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:56121600-56129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:56121600-56131000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:56121600-56131000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:56121600-56131200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:56121600-56131200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:56121600-56131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:56121800-56129600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:56121800-56130800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:56121800-56131400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:56122000-56129000	Strong transcription	Brain Substantia Nigra	brain

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