Variant report

Variant	rs370841646
Chromosome Location	chr5:113697911-113697912
allele	C/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	MAX	chr5:113697418-113698462	ECC-1	luminal epithelium:	n/a	chr5:113697435-113697445
2	ZNF143	chr5:113697549-113698612	GM12878	blood:	n/a	chr5:113698057-113698075
3	POLR2A	chr5:113696338-113698552	H1-neurons	neurons:	n/a	n/a
4	MAX	chr5:113697278-113698327	MCF-7	breast:	n/a	chr5:113697435-113697445
5	TEAD4	chr5:113697539-113697960	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:113697291-113699078	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr5:113697577-113698095	GM12878	blood:	n/a	n/a
8	TCF12	chr5:113697394-113698141	ECC-1	luminal epithelium:	n/a	chr5:113698106-113698113 chr5:113698097-113698107
9	TBL1XR1	chr5:113697452-113697934	GM12878	blood:	n/a	n/a
10	NFYB	chr5:113697414-113697952	GM12878	blood:	n/a	chr5:113697689-113697704 chr5:113697689-113697703 chr5:113697689-113697704 chr5:113697688-113697700
11	CTCF	chr5:113697880-113698030	GM12866	blood:	n/a	n/a
12	MAZ	chr5:113696642-113698138	GM12878	blood:	n/a	chr5:113696803-113696813 chr5:113697435-113697445 chr5:113696949-113696959
13	POLR2A	chr5:113697330-113699881	HL-60	blood:	n/a	n/a
14	TCF12	chr5:113697858-113698185	GM12878	blood:	n/a	chr5:113698106-113698113 chr5:113698139-113698146 chr5:113698097-113698107
15	ELF1	chr5:113697433-113698180	GM12878	blood:	n/a	chr5:113698067-113698076 chr5:113698074-113698086 chr5:113698119-113698128 chr5:113698068-113698080 chr5:113697883-113697892 chr5:113697882-113697894 chr5:113697886-113697895 chr5:113697889-113697898 chr5:113697885-113697897
16	EGR1	chr5:113697829-113698270	MCF-7	breast:	n/a	chr5:113698070-113698085 chr5:113698070-113698080 chr5:113698074-113698083 chr5:113698071-113698084 chr5:113698074-113698084 chr5:113698071-113698084 chr5:113698071-113698084
17	MXI1	chr5:113697211-113698103	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr5:113697441-113697969	A549	lung:	n/a	n/a
19	POLR2A	chr5:113696260-113698569	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr5:113696959-113698402	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr5:113697296-113698070	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:113697120-113697961	H1-hESC	embryonic stem cell:	n/a	chr5:113697435-113697445
23	ZNF143	chr5:113696537-113698238	H1-hESC	embryonic stem cell:	n/a	chr5:113696679-113696689 chr5:113698057-113698075
24	NRF1	chr5:113697607-113697931	GM12878	blood:	n/a	chr5:113697625-113697634
25	CTBP2	chr5:113696255-113699679	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr5:113697566-113697919	GM12878	blood:	n/a	chr5:113697884-113697893 chr5:113697881-113697890 chr5:113697887-113697896
27	MAX	chr5:113697180-113699945	H1-hESC	embryonic stem cell:	n/a	chr5:113697435-113697445
28	TAF1	chr5:113697538-113698087	H1-neurons	neurons:	n/a	n/a
29	CREB1	chr5:113697244-113698442	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr5:113696617-113698365	GM12878	blood:	n/a	n/a
31	ZNF263	chr5:113697557-113698303	HEK293-T-REx	kidney:	n/a	n/a
32	TBP	chr5:113696071-113698416	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr5:113697509-113697961	ECC-1	luminal epithelium:	n/a	chr5:113697883-113697892 chr5:113697889-113697898 chr5:113697886-113697895 chr5:113697881-113697895 chr5:113697886-113697897 chr5:113697884-113697898 chr5:113697878-113697892 chr5:113697883-113697894
34	POLR2A	chr5:113697311-113697962	MCF-7	breast:	n/a	n/a
35	MYC	chr5:113697561-113698215	MCF-7	breast:	n/a	n/a
36	TAF1	chr5:113697522-113698022	ECC-1	luminal epithelium:	n/a	n/a
37	CHD1	chr5:113697499-113697930	GM12878	blood:	n/a	n/a
38	MYC	chr5:113697570-113698210	MCF-7	breast:	n/a	n/a
39	SIN3A	chr5:113695715-113700201	H1-hESC	embryonic stem cell:	n/a	chr5:113698330-113698343 chr5:113695868-113695876
40	YY1	chr5:113697471-113697968	H1-hESC	embryonic stem cell:	n/a	chr5:113697883-113697892 chr5:113697889-113697898 chr5:113697886-113697895 chr5:113697881-113697895 chr5:113697886-113697897 chr5:113697884-113697898 chr5:113697878-113697892 chr5:113697883-113697894
41	MAX	chr5:113697177-113699551	H1-hESC	embryonic stem cell:	n/a	chr5:113697435-113697445
42	REST	chr5:113695933-113698778	H1-neurons	neurons:	n/a	chr5:113698339-113698352 chr5:113697478-113697491 chr5:113697917-113697935 chr5:113696694-113696707 chr5:113698335-113698355 chr5:113697283-113697296 chr5:113698339-113698352 chr5:113697371-113697384 chr5:113698091-113698104
43	CEBPB	chr5:113697619-113698066	MCF-7	breast:	n/a	n/a
44	SP4	chr5:113697486-113697923	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr5:113697518-113698288	GM12878	blood:	n/a	n/a
46	TEAD4	chr5:113697651-113698000	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:113696956-113698073	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:113697473-113698392	HL-60	blood:	n/a	n/a
49	E2F6	chr5:113697469-113699950	H1-hESC	embryonic stem cell:	n/a	chr5:113698328-113698337 chr5:113697691-113697700 chr5:113697887-113697897 chr5:113697881-113697891 chr5:113698015-113698025 chr5:113697884-113697894 chr5:113697878-113697888 chr5:113698070-113698079 chr5:113697660-113697669 chr5:113698068-113698078 chr5:113698076-113698088
50	CTCF	chr5:113697731-113697931	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:113697895-113697945	HNPCEpiC	eye:	n/a
2	chr5:113697895-113697945	U87	brain:	n/a
3	chr5:113697895-113697945	NHBE	bronchial:	n/a
4	chr5:113697861-113697911	HL-60	blood:	n/a
5	chr5:113697897-113697947	HEK293	kidney:	embryo
6	chr5:113697861-113697911	AG09319	gingival:	n/a
7	chr5:113697861-113697911	AG09309	skin:	n/a
8	chr5:113697897-113697947	HUVEC	blood vessel:	n/a
9	chr5:113697861-113697911	GM19239	blood:	n/a
10	chr5:113697861-113697911	HCPEpiC	choroid plexus:	n/a
11	chr5:113697861-113697911	HUVEC	blood vessel:	n/a
12	chr5:113697895-113697945	ovcar-3	ovarian:	n/a
13	chr5:113697895-113697945	HMEC	breast:	n/a
14	chr5:113697861-113697911	AG10803	skin:	n/a
15	chr5:113697897-113697947	HRCEpiC	kidney:	n/a
16	chr5:113697897-113697947	AG10803	skin:	n/a
17	chr5:113697861-113697911	Hela-S3	cervix:	n/a
18	chr5:113697861-113697911	HCM	heart:	n/a
19	chr5:113697897-113697947	GM06990	blood:	n/a
20	chr5:113697897-113697947	BJ	skin:	n/a
21	chr5:113697895-113697945	SKMC	muscle:	n/a
22	chr5:113697895-113697945	T-47D	breast:	n/a
23	chr5:113697861-113697911	MCF10A-Er-Src	breast:	n/a
24	chr5:113697897-113697947	Caco-2	colon:	n/a
25	chr5:113697861-113697911	HRE	kidney:	n/a
26	chr5:113697861-113697911	NH-A	brain:	n/a
27	chr5:113697897-113697947	HepG2	liver:	n/a
28	chr5:113697897-113697947	GM12891	blood:	n/a
29	chr5:113697895-113697945	HRPEpiC	eye:	n/a
30	chr5:113697897-113697947	A549	lung:	n/a
31	chr5:113697895-113697945	H1-hESC	embryonic stem cell:	embryo
32	chr5:113697861-113697911	BJ	skin:	n/a
33	chr5:113697895-113697945	GM12878	blood:	n/a
34	chr5:113697895-113697945	HAEpiC	amniotic membrane:	n/a
35	chr5:113697861-113697911	GM06990	blood:	n/a
36	chr5:113697861-113697911	SKMC	muscle:	n/a
37	chr5:113697895-113697945	GM12891	blood:	n/a
38	chr5:113697861-113697911	ProgFib	skin:	n/a
39	chr5:113697897-113697947	HEEpiC	esophagus:	n/a
40	chr5:113697897-113697947	CMK	blood:	n/a
41	chr5:113697897-113697947	HCM	heart:	n/a
42	chr5:113697895-113697945	PANC-1	pancreas:	n/a
43	chr5:113697861-113697911	ovcar-3	ovarian:	n/a
44	chr5:113697861-113697911	BE2_C	brain:	n/a
45	chr5:113697895-113697945	HEK293	kidney:	embryo
46	chr5:113697861-113697911	HEEpiC	esophagus:	n/a
47	chr5:113697895-113697945	HRE	kidney:	n/a
48	chr5:113697895-113697945	HRCEpiC	kidney:	n/a
49	chr5:113697897-113697947	HCT-116	colon:	n/a
50	chr5:113697895-113697945	GM19239	blood:	n/a

Variant related genes	Relation type
KCNN2	TF binding region
KCNN2	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882728	chr5:113651694-113731423	Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3345645	chr5:113697478-113700026	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113695200-113698000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:113695200-113698400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:113695200-113698800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:113695200-113699400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:113695400-113699400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:113695600-113698800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:113695600-113699200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:113695600-113700200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:113695600-113701000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:113695800-113698800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:113695800-113700000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:113696000-113699000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:113696000-113699000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:113696000-113699600	Active TSS	Brain Anterior Caudate	brain
15	chr5:113696200-113698400	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr5:113696200-113698600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:113696200-113698800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:113696200-113698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:113696200-113698800	Active TSS	Right Ventricle	heart
20	chr5:113696200-113699200	Active TSS	Brain Substantia Nigra	brain
21	chr5:113696200-113699800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:113696200-113700200	Active TSS	Brain Angular Gyrus	brain
23	chr5:113696400-113698000	Bivalent Enhancer	Placenta	Placenta
24	chr5:113696400-113698200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:113696400-113698600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:113696400-113698800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:113696400-113698800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:113696400-113699200	Active TSS	Fetal Kidney	kidney
29	chr5:113696400-113699200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr5:113696400-113699400	Active TSS	Left Ventricle	heart
31	chr5:113696400-113699400	Active TSS	Right Atrium	heart
32	chr5:113696600-113698000	Bivalent/Poised TSS	Fetal Thymus	thymus
33	chr5:113696600-113698200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr5:113696600-113698400	Bivalent/Poised TSS	A549	lung
35	chr5:113696600-113698600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:113696600-113698600	Active TSS	Fetal Brain Female	brain
37	chr5:113696600-113698800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr5:113696600-113699200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:113696600-113699400	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:113696600-113699400	Bivalent/Poised TSS	NHLF	lung
41	chr5:113696600-113699600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:113696600-113699800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:113696800-113698000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr5:113696800-113698000	Bivalent/Poised TSS	NH-A	brain
45	chr5:113696800-113698200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:113696800-113698400	Bivalent/Poised TSS	Thymus	Thymus
47	chr5:113696800-113698800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:113696800-113699000	Bivalent/Poised TSS	NHEK	skin
49	chr5:113696800-113699200	Weak transcription	Fetal Heart	heart
50	chr5:113696800-113699800	Bivalent/Poised TSS	Psoas Muscle	Psoas

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