Variant report

Variant	rs544650745
Chromosome Location	chr7:150675448-150675449
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	RCOR1	chr7:150675352-150676652	K562	blood:	n/a	n/a
2	YY1	chr7:150675417-150675827	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr7:150675385-150675806	K562	blood:	n/a	chr7:150675530-150675542 chr7:150675529-150675539 chr7:150675526-150675541 chr7:150675526-150675541 chr7:150675527-150675541
4	CCNT2	chr7:150674965-150675820	K562	blood:	n/a	chr7:150675703-150675712
5	MAZ	chr7:150675175-150676745	IMR90	lung:	n/a	chr7:150676336-150676346
6	MXI1	chr7:150667686-150678267	SK-N-SH	brain:	n/a	chr7:150668498-150668513 chr7:150668500-150668515
7	MYC	chr7:150675337-150675666	K562	blood:	n/a	n/a
8	E2F6	chr7:150675052-150675634	K562	blood:	n/a	chr7:150675224-150675234 chr7:150675223-150675232
9	JUND	chr7:150675275-150675457	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:150675208-150675448	K562	blood:	n/a	n/a
11	REST	chr7:150674299-150677276	H1-neurons	neurons:	n/a	chr7:150676665-150676685 chr7:150676666-150676684 chr7:150676421-150676434 chr7:150675568-150675581 chr7:150676665-150676685 chr7:150676295-150676315
12	TAF1	chr7:150675354-150676588	H1-neurons	neurons:	n/a	n/a
13	YY1	chr7:150674944-150675465	K562	blood:	n/a	chr7:150675223-150675232 chr7:150675015-150675029
14	GABPA	chr7:150675336-150676853	K562	blood:	n/a	chr7:150676550-150676559 chr7:150676406-150676415
15	POLR2A	chr7:150674435-150677141	H1-neurons	neurons:	n/a	n/a
16	MAZ	chr7:150675337-150676410	GM12878	blood:	n/a	chr7:150676336-150676346
17	SIN3AK20	chr7:150674872-150675452	K562	blood:	n/a	n/a
18	MAX	chr7:150674899-150676732	K562	blood:	n/a	chr7:150676336-150676346
19	NR2F2	chr7:150675422-150676612	K562	blood:	n/a	n/a
20	MAX	chr7:150675399-150676030	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr7:150675066-150676870	H1-hESC	embryonic stem cell:	n/a	chr7:150676337-150676350
22	TCF12	chr7:150675321-150675903	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:150675260-150675470	HCT-116	colon:	n/a	n/a
24	EGR1	chr7:150675224-150675875	K562	blood:	n/a	chr7:150675698-150675711
25	ZBTB7A	chr7:150674547-150676739	K562	blood:	n/a	n/a
26	RAD21	chr7:150675446-150678328	SK-N-SH	brain:	n/a	chr7:150676868-150676887 chr7:150677600-150677610
27	EGR1	chr7:150675197-150675499	K562	blood:	n/a	n/a
28	POLR2A	chr7:150675190-150675537	K562	blood:	n/a	n/a
29	YY1	chr7:150675233-150675463	K562	blood:	n/a	n/a
30	ZBTB7A	chr7:150675303-150676497	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr7:150675384-150676295	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:150675182-150676364	Raji	blood:	n/a	n/a
33	MAZ	chr7:150674925-150676710	K562	blood:	n/a	chr7:150676336-150676346
34	ELF1	chr7:150675416-150675732	K562	blood:	n/a	n/a
35	HMGN3	chr7:150675032-150675855	K562	blood:	n/a	n/a
36	POLR2A	chr7:150674365-150677052	H1-neurons	neurons:	n/a	n/a
37	MAX	chr7:150675345-150675899	K562	blood:	n/a	n/a
38	ZBTB7A	chr7:150675376-150676016	ECC-1	luminal epithelium:	n/a	n/a
39	ZBTB7A	chr7:150675155-150676816	K562	blood:	n/a	n/a
40	NFYB	chr7:150675378-150675630	GM12878	blood:	n/a	chr7:150675530-150675542 chr7:150675529-150675539 chr7:150675526-150675541 chr7:150675526-150675541 chr7:150675527-150675541

No.	Distal block	Cell Line	Cell type
1	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
2	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
3	chr7:150673570..150675827-chr7:150725848..150727398,2	MCF-7	breast:
4	chr7:150064708..150066870-chr7:150673905..150675576,2	MCF-7	breast:
5	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
6	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000106526	Chromatin interaction
ENSG00000243433	Chromatin interaction
ENSG00000055118	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
19	esv3339760	chr7:150673844-150676392	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	esv3331100	chr7:150674019-150676492	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	esv3403395	chr7:150674469-150676667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150672800-150675600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr7:150673600-150676600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:150673800-150675600	Weak transcription	A549	lung
4	chr7:150674000-150675600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr7:150674200-150675600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:150674200-150675600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:150674200-150676000	Active TSS	Left Ventricle	heart
8	chr7:150674200-150676400	Active TSS	Right Atrium	heart
9	chr7:150674400-150675600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr7:150674600-150675600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:150674600-150675600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:150674600-150675600	Bivalent/Poised TSS	Colonic Mucosa	Colon
13	chr7:150674600-150675600	Active TSS	Colon Smooth Muscle	Colon
14	chr7:150674600-150675600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr7:150674600-150675600	Weak transcription	Lung	lung
16	chr7:150674600-150675600	Active TSS	Right Ventricle	heart
17	chr7:150674600-150675600	Active TSS	Stomach Smooth Muscle	stomach
18	chr7:150674600-150675600	Bivalent/Poised TSS	Thymus	Thymus
19	chr7:150674600-150676000	Enhancers	Liver	Liver
20	chr7:150674600-150676400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr7:150674600-150676600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150674600-150676600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150674600-150676600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:150674600-150676600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:150674600-150676600	Enhancers	Primary hematopoietic stem cells	blood
26	chr7:150674600-150676800	Active TSS	Fetal Brain Female	brain
27	chr7:150674800-150675600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:150674800-150675600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:150674800-150675600	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr7:150674800-150675600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:150674800-150675600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:150674800-150675600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:150674800-150675600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:150674800-150675600	Enhancers	Fetal Brain Male	brain
35	chr7:150674800-150675600	Weak transcription	Fetal Heart	heart
36	chr7:150674800-150675600	Weak transcription	Fetal Kidney	kidney
37	chr7:150674800-150675600	Weak transcription	Gastric	stomach
38	chr7:150674800-150675600	Active TSS	HepG2	liver
39	chr7:150674800-150675600	Active TSS	HSMM	muscle
40	chr7:150674800-150675600	Active TSS	K562	blood
41	chr7:150674800-150676000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:150674800-150676000	Active TSS	HSMMtube	muscle
43	chr7:150674800-150676600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:150674800-150676600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:150674800-150676600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:150674800-150676600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:150674800-150676600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:150674800-150676600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:150674800-150676600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:150674800-150676600	Active TSS	Brain Cingulate Gyrus	brain

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