Variant report

Variant	rs551346665
Chromosome Location	chr7:112430888-112430889
allele	G/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	POLR2A	chr7:112429717-112431044	GM12891	blood:	n/a	n/a
2	BCLAF1	chr7:112429746-112431067	GM12878	blood:	n/a	n/a
3	TEAD4	chr7:112429385-112431031	K562	blood:	n/a	n/a
4	NFIC	chr7:112430045-112431091	GM12878	blood:	n/a	n/a
5	MTA3	chr7:112429570-112431084	GM12878	blood:	n/a	n/a
6	RELA	chr7:112429836-112430951	GM15510	blood:	n/a	n/a
7	CBX3	chr7:112429526-112430956	K562	blood:	n/a	n/a
8	EP300	chr7:112430693-112431015	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:112429746-112430941	GM12878	blood:	n/a	n/a
10	CHD1	chr7:112429717-112430944	GM12878	blood:	n/a	n/a
11	MAFK	chr7:112429766-112430944	K562	blood:	n/a	n/a
12	POU2F2	chr7:112429751-112431021	GM12878	blood:	n/a	chr7:112430508-112430520
13	POLR2A	chr7:112429667-112431051	GM12878	blood:	n/a	n/a
14	RFX5	chr7:112430236-112430912	GM12878	blood:	n/a	n/a
15	YY1	chr7:112429579-112430893	SK-N-SH	brain:	n/a	chr7:112430420-112430442 chr7:112430420-112430430 chr7:112430422-112430431
16	MAX	chr7:112429714-112430908	K562	blood:	n/a	n/a
17	RELA	chr7:112429780-112430948	GM19099	blood:	n/a	n/a
18	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
19	BCLAF1	chr7:112430025-112430983	GM12878	blood:	n/a	n/a
20	STAT5A	chr7:112429788-112430957	GM12878	blood:	n/a	chr7:112430509-112430521
21	POLR2A	chr7:112429842-112430907	GM12878	blood:	n/a	n/a
22	MAX	chr7:112429714-112431012	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:112428826-112431111	MCF10A-Er-Src	breast:	n/a	n/a
24	PML	chr7:112429729-112430888	K562	blood:	n/a	n/a
25	ELK1	chr7:112430078-112430963	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:112429720-112430906	HL-60	blood:	n/a	n/a
27	HDAC2	chr7:112429817-112430953	MCF-7	breast:	n/a	n/a
28	UBTF	chr7:112429731-112431013	K562	blood:	n/a	n/a
29	SIN3AK20	chr7:112429530-112431016	MCF-7	breast:	n/a	n/a
30	STAT1	chr7:112429695-112430957	GM12878	blood:	n/a	chr7:112430509-112430521
31	SPI1	chr7:112430761-112430955	GM12878	blood:	n/a	n/a
32	GATA3	chr7:112429673-112431007	MCF-7	breast:	n/a	chr7:112429781-112429792
33	NR2F2	chr7:112429586-112430918	K562	blood:	n/a	n/a
34	JUND	chr7:112429619-112430926	K562	blood:	n/a	chr7:112430253-112430263
35	YY1	chr7:112429762-112430944	GM12878	blood:	n/a	chr7:112430420-112430442 chr7:112430420-112430430 chr7:112430422-112430431
36	REST	chr7:112429770-112430912	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr7:112429627-112430902	K562	blood:	n/a	n/a
38	IRF1	chr7:112429808-112430894	K562	blood:	n/a	chr7:112430123-112430137
39	POLR2A	chr7:112429823-112430907	GM12878	blood:	n/a	n/a
40	POU2F2	chr7:112429870-112430921	GM12891	blood:	n/a	chr7:112430508-112430520
41	SPI1	chr7:112430604-112431032	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:112428900-112431748	GM12891	blood:	n/a	n/a
43	MAX	chr7:112429691-112430944	SK-N-SH	brain:	n/a	n/a
44	ATF2	chr7:112429830-112431046	GM12878	blood:	n/a	n/a
45	PBX3	chr7:112430788-112430955	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:112429686-112430950	GM12878	blood:	n/a	n/a
47	MAZ	chr7:112430014-112431094	GM12878	blood:	n/a	n/a
48	MAX	chr7:112429729-112431022	SK-N-SH	brain:	n/a	n/a
49	TBP	chr7:112429785-112430942	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:112429772-112430999	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
2	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

Variant related genes	Relation type
TMEM168	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112428600-112431200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:112428800-112431000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:112428800-112431000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:112428800-112431000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:112428800-112431000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:112428800-112431000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:112428800-112431000	Active TSS	Left Ventricle	heart
8	chr7:112429000-112431000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:112429000-112431000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:112429000-112431000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:112429000-112431200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:112429200-112431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:112429200-112431000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:112429200-112431000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:112429200-112431000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:112429200-112431000	Active TSS	Colonic Mucosa	Colon
17	chr7:112429200-112431000	Active TSS	Fetal Intestine Small	intestine
18	chr7:112429200-112431000	Active TSS	Fetal Kidney	kidney
19	chr7:112429200-112431000	Active TSS	Fetal Muscle Trunk	muscle
20	chr7:112429200-112431000	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:112429200-112431000	Active TSS	HMEC	breast
22	chr7:112429200-112431000	Active TSS	HSMM	muscle
23	chr7:112429200-112431000	Active TSS	NHLF	lung
24	chr7:112429400-112431000	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:112429400-112431000	Active TSS	Liver	Liver
26	chr7:112429400-112431000	Active TSS	Brain Angular Gyrus	brain
27	chr7:112429400-112431000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:112429400-112431000	Active TSS	Placenta	Placenta
29	chr7:112429400-112431000	Active TSS	Psoas Muscle	Psoas
30	chr7:112429400-112431000	Active TSS	Right Atrium	heart
31	chr7:112429400-112431000	Active TSS	Right Ventricle	heart
32	chr7:112429400-112431400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:112429600-112431000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:112429600-112431000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:112429600-112431000	Active TSS	Brain Anterior Caudate	brain
36	chr7:112429600-112431000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:112429600-112431000	ZNF genes & repeats	Fetal Brain Male	brain
38	chr7:112429600-112431000	Active TSS	NH-A	brain
39	chr7:112429800-112431000	Active TSS	Primary T cells from cord blood	blood
40	chr7:112429800-112431000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:112429800-112431000	Active TSS	Fetal Lung	lung
42	chr7:112430400-112431000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:112430400-112431000	Active TSS	Brain Germinal Matrix	brain
44	chr7:112430400-112433000	Active TSS	HepG2	liver
45	chr7:112430600-112431000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:112430600-112431000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:112430600-112431000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:112430600-112431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:112430600-112431000	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:112430600-112431000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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