Variant report

Variant	rs553641782
Chromosome Location	chr7:69062750-69062751
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	E2F6	chr7:69062199-69063044	A549	lung:	n/a	chr7:69062900-69062909 chr7:69062983-69062998
2	MAX	chr7:69061894-69064031	NB4	blood:	n/a	chr7:69063994-69064004 chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
3	ZNF143	chr7:69062679-69063370	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr7:69062625-69062801	K562	blood:	n/a	chr7:69062725-69062734
5	MAX	chr7:69062518-69062753	HepG2	liver:	n/a	n/a
6	MAX	chr7:69062435-69062775	GM12878	blood:	n/a	n/a
7	YY1	chr7:69062426-69062764	HepG2	liver:	n/a	n/a
8	MAX	chr7:69062275-69062875	MCF-7	breast:	n/a	n/a
9	MAZ	chr7:69062254-69063503	GM12878	blood:	n/a	chr7:69063176-69063186
10	CTBP2	chr7:69062218-69062982	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:69062600-69062750	SK-N-SH_RA	brain:	n/a	n/a
12	ZNF263	chr7:69061871-69062963	HEK293-T-REx	kidney:	n/a	n/a
13	MAZ	chr7:69062477-69063410	HepG2	liver:	n/a	chr7:69063176-69063186
14	EP300	chr7:69062204-69064153	SK-N-SH	brain:	n/a	chr7:69062662-69062678
15	POLR2A	chr7:69062378-69063216	A549	lung:	n/a	n/a
16	RAD21	chr7:69062258-69062957	SK-N-SH_RA	brain:	n/a	n/a
17	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr7:69062271-69063050	HL-60	blood:	n/a	n/a
19	E2F6	chr7:69062259-69063011	H1-hESC	embryonic stem cell:	n/a	chr7:69062900-69062909 chr7:69062983-69062998
20	MYC	chr7:69062086-69063958	NB4	blood:	n/a	chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
21	CTCF	chr7:69062584-69062763	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:69061928-69063201	SK-N-MC	brain:	n/a	n/a
23	BACH1	chr7:69062461-69063013	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr7:69062378-69062801	A549	lung:	n/a	n/a
25	MXI1	chr7:69062412-69062797	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:69062075-69062784	SK-N-SH	brain:	n/a	n/a
27	STAT5A	chr7:69062402-69062766	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:69062362-69063028	Gliobla	brain:	n/a	n/a
29	MAX	chr7:69062167-69064206	A549	lung:	n/a	chr7:69064068-69064078 chr7:69063994-69064004 chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
30	POLR2A	chr7:69062367-69063610	HEK293	kidney:	n/a	n/a
31	SIN3A	chr7:69062462-69063395	H1-hESC	embryonic stem cell:	n/a	chr7:69063128-69063141
32	MAX	chr7:69062356-69062844	H1-hESC	embryonic stem cell:	n/a	n/a
33	NRF1	chr7:69062665-69064204	SK-N-SH	brain:	n/a	chr7:69063106-69063117 chr7:69063178-69063187 chr7:69064167-69064176 chr7:69063443-69063452
34	CTCF	chr7:69062640-69062790	GM12874	blood:	n/a	n/a
35	SIN3AK20	chr7:69062274-69062780	SK-N-SH	brain:	n/a	n/a
36	MAX	chr7:69062347-69063690	HepG2	liver:	n/a	chr7:69063176-69063186
37	MAX	chr7:69062310-69062865	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F6	chr7:69062354-69062832	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr7:69062018-69063720	SK-N-SH	brain:	n/a	chr7:69063176-69063186
40	POLR2A	chr7:69061966-69063692	NB4	blood:	n/a	n/a
41	MAZ	chr7:69062205-69064133	IMR90	lung:	n/a	chr7:69064068-69064078 chr7:69063994-69064004 chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
42	POLR2A	chr7:69062226-69063895	Raji	blood:	n/a	n/a
43	ELF1	chr7:69062243-69064207	GM12878	blood:	n/a	chr7:69063459-69063471 chr7:69063094-69063106
44	RAD21	chr7:69061852-69063005	SK-N-SH_RA	brain:	n/a	n/a
45	MAX	chr7:69062170-69063386	SK-N-SH	brain:	n/a	chr7:69063176-69063186
46	MAX	chr7:69062292-69063476	A549	lung:	n/a	chr7:69063176-69063186

No.	Distal block	Cell Line	Cell type
1	chr10:104261951..104262527-chr7:69062342..69063007,2	NB4	blood:
2	chr17:73150080..73150778-chr7:69062421..69063092,2	NB4	blood:
3	chr1:198906160..198906960-chr7:69062272..69062955,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
2	lnc-AUTS2-1	chr7:69061156-69063004	XLOC_006142
3	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
4	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121322
5	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121323

Variant related genes	Relation type
AUTS2	TF binding region
ENSG00000234215	TF binding region
ENSG00000138107	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000229989	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription 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	11 gene(s)	inside rSNPs	diseases
5	nsv5783	chr7:69048608-69066760	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3340834	chr7:69061816-69066664	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3330381	chr7:69062041-69064889	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
2	chr7:69061800-69062800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:69061800-69063800	Active TSS	Primary T cells from cord blood	blood
6	chr7:69061800-69065200	Active TSS	Brain Hippocampus Middle	brain
7	chr7:69061800-69065200	Active TSS	Fetal Lung	lung
8	chr7:69061800-69065400	Active TSS	Aorta	Aorta
9	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
13	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:69062000-69062800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:69062000-69062800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:69062000-69062800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr7:69062000-69062800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:69062000-69062800	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr7:69062000-69063000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr7:69062000-69063000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:69062000-69063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:69062000-69063000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:69062000-69063000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr7:69062000-69063600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:69062000-69063800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:69062000-69064400	Active TSS	Fetal Brain Female	brain
27	chr7:69062000-69064800	Active TSS	Osteobl	bone
28	chr7:69062000-69065000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:69062000-69065400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:69062000-69065400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:69062000-69065400	Active TSS	Fetal Intestine Large	intestine
32	chr7:69062000-69065400	Active TSS	NH-A	brain
33	chr7:69062000-69065600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:69062000-69065600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:69062000-69065600	Active TSS	Brain Substantia Nigra	brain
36	chr7:69062000-69065600	Active TSS	Fetal Intestine Small	intestine
37	chr7:69062000-69066000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:69062000-69066000	Active TSS	Ovary	ovary
39	chr7:69062000-69066200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:69062000-69066200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:69062000-69066400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:69062000-69066400	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:69062000-69066400	Active TSS	NHDF-Ad	bronchial
44	chr7:69062200-69062800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:69062200-69062800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:69062200-69062800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr7:69062200-69062800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr7:69062200-69062800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:69062200-69062800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:69062200-69062800	Enhancers	Fetal Brain Male	brain

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