Variant report

Variant	rs73683279
Chromosome Location	chr7:26332616-26332617
allele	A/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	CEBPD	chr7:26332424-26332776	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:26332359-26332656	HepG2	liver:	n/a	n/a
3	TBL1XR1	chr7:26332579-26332643	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:26332439-26332725	MCF-7	breast:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
5	CEBPB	chr7:26332499-26332720	HepG2	liver:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
6	JUND	chr7:26332457-26332713	K562	blood:	n/a	n/a
7	JUND	chr7:26332480-26332712	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:26332433-26332750	H1-hESC	embryonic stem cell:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
9	EP300	chr7:26332480-26332653	HepG2	liver:	n/a	chr7:26332589-26332603
10	IKZF1	chr7:26331807-26332683	GM12878	blood:	n/a	n/a
11	CEBPB	chr7:26332345-26332801	HepG2	liver:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
12	MAX	chr7:26332175-26332640	GM12878	blood:	n/a	chr7:26332591-26332600
13	CHD2	chr7:26332364-26332749	GM12878	blood:	n/a	n/a
14	ZNF263	chr7:26332200-26332670	HEK293-T-REx	kidney:	n/a	n/a
15	CTCF	chr7:26332600-26332750	HepG2	liver:	n/a	chr7:26332614-26332627
16	POLR2A	chr7:26332448-26332628	ProgFib	skin:	n/a	n/a
17	FOXA1	chr7:26332436-26332791	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:26332426-26332624	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:26332572-26332689	MCF-7	breast:	n/a	n/a
20	MAZ	chr7:26332474-26332784	K562	blood:	n/a	chr7:26332591-26332600
21	CEBPB	chr7:26332413-26332781	HepG2	liver:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
22	RCOR1	chr7:26332299-26332704	K562	blood:	n/a	n/a
23	CEBPB	chr7:26332427-26332743	K562	blood:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
24	RCOR1	chr7:26332469-26332681	HepG2	liver:	n/a	n/a
25	CEBPD	chr7:26332434-26332735	HepG2	liver:	n/a	n/a
26	STAT3	chr7:26332533-26332685	MCF10A-Er-Src	breast:	n/a	chr7:26332603-26332615
27	MAZ	chr7:26331193-26332763	HepG2	liver:	n/a	chr7:26332591-26332600
28	MAZ	chr7:26332448-26332719	GM12878	blood:	n/a	chr7:26332591-26332600
29	SIN3AK20	chr7:26332441-26332671	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:26332399-26332779	HepG2	liver:	n/a	chr7:26332588-26332599 chr7:26332590-26332601
31	HA-E2F1	chr7:26331069-26332669	MCF-7	breast:	n/a	chr7:26331621-26331635 chr7:26331626-26331633 chr7:26331606-26331616 chr7:26331615-26331625 chr7:26331522-26331531
32	HEY1	chr7:26332294-26332714	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:26332140-26332724	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:26332309-26332726	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:26332383-26332643	HepG2	liver:	n/a	n/a
36	MYC	chr7:26332473-26332636	HepG2	liver:	n/a	chr7:26332591-26332600
37	CHD2	chr7:26332549-26332658	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
2	chr7:26245933..26247865-chr7:26330832..26332898,2	MCF-7	breast:
3	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
4	chr7:26328900..26331776-chr7:26331845..26333997,2	K562	blood:
5	chr7:26313684..26316528-chr7:26331156..26333725,2	K562	blood:
6	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:
7	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
8	chr7:26330494..26332726-chr7:26403941..26406420,2	MCF-7	breast:
9	chr7:26235076..26236673-chr7:26331695..26333731,2	K562	blood:
10	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
11	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
12	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000232383	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56104179	1.00[AFR][1000 genomes]
rs73683259	0.83[AFR][1000 genomes]
rs73683261	1.00[AFR][1000 genomes]
rs73683262	1.00[AFR][1000 genomes]
rs73683278	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1018352	chr7:26298095-26341825	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26331000-26332800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:26331000-26332800	Flanking Active TSS	Dnd41	blood
3	chr7:26331200-26333200	Active TSS	Brain Hippocampus Middle	brain
4	chr7:26331200-26333600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:26331200-26333800	Active TSS	Brain Angular Gyrus	brain
6	chr7:26331400-26333000	Active TSS	GM12878-XiMat	blood
7	chr7:26331600-26333000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:26331800-26332800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:26331800-26332800	Flanking Active TSS	Fetal Thymus	thymus
10	chr7:26331800-26333400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr7:26331800-26333800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr7:26331800-26333800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:26331800-26334200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:26331800-26334400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr7:26332000-26332800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:26332000-26332800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr7:26332000-26333400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr7:26332000-26334000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:26332000-26334200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr7:26332000-26334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:26332000-26334600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr7:26332200-26332800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:26332200-26332800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr7:26332200-26332800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:26332200-26332800	Enhancers	Spleen	Spleen
26	chr7:26332200-26334400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:26332200-26334600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr7:26332200-26334800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:26332400-26332800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:26332400-26332800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:26332400-26332800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
32	chr7:26332400-26333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:26332400-26333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:26332400-26333200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr7:26332400-26347000	Weak transcription	HMEC	breast
36	chr7:26332600-26332800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:26332600-26332800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:26332600-26332800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:26332600-26332800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:26332600-26332800	Enhancers	Fetal Brain Male	brain
41	chr7:26332600-26332800	Flanking Active TSS	Fetal Brain Female	brain
42	chr7:26332600-26332800	Enhancers	Fetal Intestine Small	intestine
43	chr7:26332600-26332800	Enhancers	Fetal Muscle Leg	muscle
44	chr7:26332600-26332800	Flanking Active TSS	Placenta	Placenta
45	chr7:26332600-26332800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:26332600-26332800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr7:26332600-26333000	Enhancers	Colonic Mucosa	Colon
48	chr7:26332600-26333000	Weak transcription	NHEK	skin
49	chr7:26332600-26333200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:26332600-26333200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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