Variant report

Variant	rs13247260
Chromosome Location	chr7:136553263-136553264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:136553239-136553777	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:136553061-136554230	IMR90	lung:	n/a	n/a
3	REST	chr7:136552829-136553812	H1-neurons	neurons:	n/a	n/a
4	SUZ12	chr7:136553140-136556649	NT2-D1	testis:	n/a	n/a
5	MAZ	chr7:136553023-136556655	IMR90	lung:	n/a	chr7:136554300-136554307 chr7:136553782-136553792
6	CHD1	chr7:136552867-136556782	IMR90	lung:	n/a	chr7:136553454-136553461
7	POLR2A	chr7:136553021-136554556	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:136553263-136553313	HRPEpiC	eye:	n/a
2	chr7:136553243-136553293	AG04449	skin:	fetal
3	chr7:136553243-136553293	SK-N-MC	brain:	n/a
4	chr7:136553263-136553313	GM12891	blood:	n/a
5	chr7:136553243-136553293	GM12878	blood:	n/a
6	chr7:136553243-136553293	HCPEpiC	choroid plexus:	n/a
7	chr7:136553243-136553293	GM12892	blood:	n/a
8	chr7:136553243-136553293	NT2-D1	testis:	n/a
9	chr7:136553263-136553313	T-47D	breast:	n/a
10	chr7:136553263-136553313	PrEC	prostate:	n/a
11	chr7:136553243-136553293	Jurkat	blood:	n/a
12	chr7:136553243-136553293	SAEC	small airway:	n/a
13	chr7:136553263-136553313	CMK	blood:	n/a
14	chr7:136553243-136553293	NB4	blood:	n/a
15	chr7:136553263-136553313	HCT-116	colon:	n/a
16	chr7:136553243-136553293	RPTEC	kidney:	n/a
17	chr7:136553263-136553313	GM06990	blood:	n/a
18	chr7:136553243-136553293	H1-hESC	embryonic stem cell:	embryo
19	chr7:136553263-136553313	Jurkat	blood:	n/a
20	chr7:136553263-136553313	HAEpiC	amniotic membrane:	n/a
21	chr7:136553263-136553313	LNCaP	prostate:	n/a
22	chr7:136553263-136553313	PFSK-1	brain:	n/a
23	chr7:136553263-136553313	SK-N-SH_RA	brain:	n/a
24	chr7:136553263-136553313	AG04450	lung:	fetal
25	chr7:136553263-136553313	GM12892	blood:	n/a
26	chr7:136553263-136553313	MCF-7	breast:	n/a
27	chr7:136553243-136553293	AG09319	gingival:	n/a
28	chr7:136553243-136553293	K562	blood:	n/a
29	chr7:136553243-136553293	SK-N-SH_RA	brain:	n/a
30	chr7:136553243-136553293	GM12891	blood:	n/a
31	chr7:136553243-136553293	AoSMC	blood vessel:	n/a
32	chr7:136553263-136553313	HIPEpiC	eye:	n/a
33	chr7:136553263-136553313	HCF	heart:	n/a
34	chr7:136553263-136553313	HNPCEpiC	eye:	n/a
35	chr7:136553263-136553313	HEEpiC	esophagus:	n/a
36	chr7:136553243-136553293	HMEC	breast:	n/a
37	chr7:136553243-136553293	Caco-2	colon:	n/a
38	chr7:136553263-136553313	H1-hESC	embryonic stem cell:	embryo
39	chr7:136553243-136553293	PANC-1	pancreas:	n/a
40	chr7:136553263-136553313	MCF10A-Er-Src	breast:	n/a
41	chr7:136553243-136553293	HIPEpiC	eye:	n/a
42	chr7:136553243-136553293	AG10803	skin:	n/a
43	chr7:136553263-136553313	RPTEC	kidney:	n/a
44	chr7:136553243-136553293	A549	lung:	n/a
45	chr7:136553243-136553293	NHDF-neo	bronchial:	n/a
46	chr7:136553243-136553293	T-47D	breast:	n/a
47	chr7:136553263-136553313	GM12878	blood:	n/a
48	chr7:136553263-136553313	ProgFib	skin:	n/a
49	chr7:136553243-136553293	BJ	skin:	n/a
50	chr7:136553263-136553313	A549	lung:	n/a

No data

Variant related genes	Relation type
CHRM2	TF binding region
CHRM2	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2278098	0.87[ASN][1000 genomes]
rs28578872	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735028	0.87[ASN][1000 genomes]
rs7791239	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3407970	chr7:136551437-136553985	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3409315	chr7:136551562-136553810	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3436557	chr7:136552012-136553510	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136552800-136553600	Active TSS	Fetal Brain Female	brain
2	chr7:136552800-136554800	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:136553000-136553400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
4	chr7:136553000-136553400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr7:136553000-136553400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr7:136553000-136553400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:136553000-136553400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr7:136553000-136553400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr7:136553000-136553400	Active TSS	Colonic Mucosa	Colon
10	chr7:136553000-136553400	Active TSS	Fetal Brain Male	brain
11	chr7:136553000-136553400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr7:136553000-136553600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:136553000-136553600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:136553000-136553600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:136553000-136554000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:136553000-136554000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:136553000-136554000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr7:136553000-136554000	Active TSS	Placenta Amnion	Placenta Amnion
19	chr7:136553000-136554000	Flanking Bivalent TSS/Enh	NH-A	brain
20	chr7:136553000-136554200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr7:136553000-136554200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
22	chr7:136553000-136554400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:136553000-136554800	Bivalent/Poised TSS	Osteobl	bone
24	chr7:136553000-136555200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr7:136553000-136555200	Active TSS	Right Ventricle	heart
26	chr7:136553000-136556200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr7:136553000-136556200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:136553000-136556200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:136553000-136556400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:136553000-136556400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr7:136553000-136556400	Bivalent/Poised TSS	Fetal Kidney	kidney
32	chr7:136553000-136556400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:136553000-136556600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:136553000-136556600	Active TSS	Fetal Heart	heart
35	chr7:136553000-136556600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr7:136553000-136556600	Active TSS	Left Ventricle	heart
37	chr7:136553000-136557000	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:136553000-136558000	Active TSS	Right Atrium	heart
39	chr7:136553200-136553400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:136553200-136553400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr7:136553200-136553400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:136553200-136553400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:136553200-136553400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
44	chr7:136553200-136553400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:136553200-136553400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:136553200-136553400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr7:136553200-136553400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr7:136553200-136553400	Bivalent Enhancer	Placenta	Placenta
49	chr7:136553200-136553400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr7:136553200-136553600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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