Variant report

Variant	rs532187256
Chromosome Location	chr7:69062345-69062346
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	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	FOXA1	chr7:69062250-69062521	T-47D	breast:	n/a	n/a
4	GATA3	chr7:69062169-69062558	T-47D	breast:	n/a	n/a
5	MAX	chr7:69062275-69062875	MCF-7	breast:	n/a	n/a
6	MAZ	chr7:69062254-69063503	GM12878	blood:	n/a	chr7:69063176-69063186
7	CTBP2	chr7:69062218-69062982	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF263	chr7:69061871-69062963	HEK293-T-REx	kidney:	n/a	n/a
9	YY1	chr7:69062132-69062541	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr7:69062204-69064153	SK-N-SH	brain:	n/a	chr7:69062662-69062678
11	CHD2	chr7:69062219-69062472	GM12878	blood:	n/a	n/a
12	RAD21	chr7:69062258-69062957	SK-N-SH_RA	brain:	n/a	n/a
13	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:69062271-69063050	HL-60	blood:	n/a	n/a
15	E2F6	chr7:69062259-69063011	H1-hESC	embryonic stem cell:	n/a	chr7:69062900-69062909 chr7:69062983-69062998
16	MYC	chr7:69062086-69063958	NB4	blood:	n/a	chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
17	POLR2A	chr7:69061928-69063201	SK-N-MC	brain:	n/a	n/a
18	KAP1	chr7:69061852-69062361	HEK293	kidney:	n/a	n/a
19	RUNX3	chr7:69062069-69062678	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:69062075-69062784	SK-N-SH	brain:	n/a	n/a
21	MAX	chr7:69062167-69064206	A549	lung:	n/a	chr7:69064068-69064078 chr7:69063994-69064004 chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
22	RAD21	chr7:69062227-69062711	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr7:69062274-69062780	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr7:69062300-69062708	A549	lung:	n/a	n/a
25	MAX	chr7:69062310-69062865	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:69062308-69062577	SK-N-SH	brain:	n/a	n/a
27	MAX	chr7:69062018-69063720	SK-N-SH	brain:	n/a	chr7:69063176-69063186
28	PAX5	chr7:69062289-69062652	GM12878	blood:	n/a	n/a
29	RUNX3	chr7:69062117-69062565	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:69061966-69063692	NB4	blood:	n/a	n/a
31	PAX5	chr7:69062333-69062573	GM12892	blood:	n/a	n/a
32	MAZ	chr7:69062205-69064133	IMR90	lung:	n/a	chr7:69064068-69064078 chr7:69063994-69064004 chr7:69063760-69063770 chr7:69063176-69063186 chr7:69063819-69063829
33	CUX1	chr7:69061937-69062382	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:69062226-69063895	Raji	blood:	n/a	n/a
35	ELF1	chr7:69062243-69064207	GM12878	blood:	n/a	chr7:69063459-69063471 chr7:69063094-69063106
36	RAD21	chr7:69061852-69063005	SK-N-SH_RA	brain:	n/a	n/a
37	MAX	chr7:69062170-69063386	SK-N-SH	brain:	n/a	chr7:69063176-69063186
38	MAX	chr7:69062292-69063476	A549	lung:	n/a	chr7:69063176-69063186

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:104261951..104262527-chr7:69062342..69063007,2	NB4	blood:
2	chr1:198906160..198906960-chr7:69062272..69062955,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-1	chr7:69062220-69062481	NR_108105
2	lnc-CALN1-1	chr7:69062220-69062546	XLOC_006493
3	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
4	lnc-AUTS2-1	chr7:69061156-69063004	XLOC_006142
5	lnc-CALN1-1	chr7:69062220-69062434	XLOC_006493
6	lnc-CALN1-1	chr7:69062220-69063004	XLOC_006493
7	lnc-CALN1-1	chr7:69062220-69062434	ENSG00000234215.2
8	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121322
9	lnc-CALN1-1	chr7:69062220-69062803	NONHSAT121323

Variant related genes	Relation type
AUTS2	TF binding region
ENSG00000229989	Chromatin interaction
ENSG00000138107	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69061600-69062400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
3	chr7:69061800-69062400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:69061800-69062400	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:69061800-69062800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:69061800-69063800	Active TSS	Primary T cells from cord blood	blood
9	chr7:69061800-69065200	Active TSS	Brain Hippocampus Middle	brain
10	chr7:69061800-69065200	Active TSS	Fetal Lung	lung
11	chr7:69061800-69065400	Active TSS	Aorta	Aorta
12	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
16	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:69062000-69062400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr7:69062000-69062400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr7:69062000-69062400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr7:69062000-69062400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr7:69062000-69062400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:69062000-69062400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr7:69062000-69062400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr7:69062000-69062400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:69062000-69062400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:69062000-69062400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:69062000-69062400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:69062000-69062400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:69062000-69062400	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:69062000-69062400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr7:69062000-69062400	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr7:69062000-69062400	Enhancers	Placenta	Placenta
33	chr7:69062000-69062400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:69062000-69062400	Bivalent/Poised TSS	A549	lung
35	chr7:69062000-69062400	Bivalent/Poised TSS	GM12878-XiMat	blood
36	chr7:69062000-69062400	Bivalent/Poised TSS	HUVEC	blood vessel
37	chr7:69062000-69062600	Active TSS	Brain Germinal Matrix	brain
38	chr7:69062000-69062600	Flanking Active TSS	Dnd41	blood
39	chr7:69062000-69062800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:69062000-69062800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:69062000-69062800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:69062000-69062800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:69062000-69062800	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr7:69062000-69063000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr7:69062000-69063000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:69062000-69063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:69062000-69063000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:69062000-69063000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr7:69062000-69063600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:69062000-69063800	Active TSS	Rectal Mucosa Donor 31	rectum

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