Variant report

Variant	rs574383045
Chromosome Location	chr1:215256780-215256781
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:215256611-215257351	IMR90	lung:	n/a	n/a
2	E2F6	chr1:215256539-215257213	H1-hESC	embryonic stem cell:	n/a	chr1:215256543-215256552
3	E2F6	chr1:215256486-215257252	H1-hESC	embryonic stem cell:	n/a	chr1:215256543-215256552
4	MAX	chr1:215256546-215257256	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA3	chr1:215256463-215257448	T-47D	breast:	n/a	chr1:215256927-215256935
6	MAX	chr1:215256615-215257323	SK-N-SH	brain:	n/a	n/a
7	ZNF263	chr1:215256639-215257312	HEK293-T-REx	kidney:	n/a	n/a
8	SIN3AK20	chr1:215255694-215257396	MCF-7	breast:	n/a	n/a
9	MAX	chr1:215256566-215257248	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:215256411-215256872	H1-neurons	neurons:	n/a	n/a
11	MAX	chr1:215256445-215257398	SK-N-SH	brain:	n/a	chr1:215256538-215256548 chr1:215256544-215256554
12	MAZ	chr1:215255617-215257431	IMR90	lung:	n/a	chr1:215256538-215256548 chr1:215256544-215256554
13	GATA3	chr1:215256749-215257422	T-47D	breast:	n/a	chr1:215256927-215256935
14	REST	chr1:215256774-215257292	PFSK-1	brain:	n/a	chr1:215256946-215256959 chr1:215257126-215257146 chr1:215257132-215257146
15	MXI1	chr1:215255517-215257345	IMR90	lung:	n/a	n/a
16	REST	chr1:215255587-215257488	H1-neurons	neurons:	n/a	chr1:215256946-215256959 chr1:215257126-215257146 chr1:215257132-215257146
17	POLR2A	chr1:215256561-215257335	ProgFib	skin:	n/a	n/a
18	MAX	chr1:215256665-215257137	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:215256745-215256795	SK-N-SH	brain:	n/a
2	chr1:215256745-215256795	AG09309	skin:	n/a
3	chr1:215256745-215256795	NHBE	bronchial:	n/a
4	chr1:215256745-215256795	HL-60	blood:	n/a
5	chr1:215256745-215256795	H1-hESC	embryonic stem cell:	embryo
6	chr1:215256745-215256795	ovcar-3	ovarian:	n/a
7	chr1:215256745-215256795	T-47D	breast:	n/a
8	chr1:215256745-215256795	HRCEpiC	kidney:	n/a
9	chr1:215256745-215256795	GM19239	blood:	n/a
10	chr1:215256745-215256795	GM06990	blood:	n/a
11	chr1:215256745-215256795	Hepatocyte	liver:	n/a
12	chr1:215256745-215256795	HRPEpiC	eye:	n/a
13	chr1:215256745-215256795	HEEpiC	esophagus:	n/a
14	chr1:215256745-215256795	RPTEC	kidney:	n/a
15	chr1:215256745-215256795	SAEC	small airway:	n/a
16	chr1:215256745-215256795	SK-N-SH_RA	brain:	n/a
17	chr1:215256745-215256795	NH-A	brain:	n/a
18	chr1:215256745-215256795	AG09319	gingival:	n/a
19	chr1:215256745-215256795	SKMC	muscle:	n/a
20	chr1:215256745-215256795	HCPEpiC	choroid plexus:	n/a
21	chr1:215256745-215256795	Hela-S3	cervix:	n/a
22	chr1:215256745-215256795	MCF-7	breast:	n/a
23	chr1:215256745-215256795	HRE	kidney:	n/a
24	chr1:215256745-215256795	GM12891	blood:	n/a
25	chr1:215256745-215256795	GM12892	blood:	n/a
26	chr1:215256745-215256795	K562	blood:	n/a
27	chr1:215256745-215256795	LNCaP	prostate:	n/a
28	chr1:215256745-215256795	HCT-116	colon:	n/a
29	chr1:215256745-215256795	CMK	blood:	n/a
30	chr1:215256745-215256795	BJ	skin:	n/a
31	chr1:215256745-215256795	IMR90	lung:	fetal
32	chr1:215256745-215256795	HCF	heart:	n/a
33	chr1:215256745-215256795	AoSMC	blood vessel:	n/a
34	chr1:215256745-215256795	NHDF-neo	bronchial:	n/a
35	chr1:215256745-215256795	A549	lung:	n/a
36	chr1:215256745-215256795	Caco-2	colon:	n/a
37	chr1:215256745-215256795	AG10803	skin:	n/a
38	chr1:215256745-215256795	HepG2	liver:	n/a
39	chr1:215256745-215256795	PFSK-1	brain:	n/a
40	chr1:215256745-215256795	HCM	heart:	n/a
41	chr1:215256745-215256795	AG04449	skin:	fetal
42	chr1:215256745-215256795	ECC-1	luminal epithelium:	n/a
43	chr1:215256745-215256795	PANC-1	pancreas:	n/a
44	chr1:215256745-215256795	MCF10A-Er-Src	breast:	n/a
45	chr1:215256745-215256795	BE2_C	brain:	n/a
46	chr1:215256745-215256795	ProgFib	skin:	n/a
47	chr1:215256745-215256795	HUVEC	blood vessel:	n/a
48	chr1:215256745-215256795	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:215256745-215256795	GM12878	blood:	n/a
50	chr1:215256745-215256795	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
KCNK2	TF binding region
KCNK2	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3353761	chr1:215255604-215257627	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:215254800-215259000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215254800-215260000	Active TSS	Fetal Brain Female	brain
5	chr1:215255000-215256800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr1:215255000-215257000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr1:215255000-215257200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr1:215255000-215257200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:215255000-215257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:215255000-215257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:215255000-215258400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:215255200-215256800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:215255200-215256800	Active TSS	Brain Anterior Caudate	brain
14	chr1:215255200-215257000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:215255200-215257000	Enhancers	Spleen	Spleen
16	chr1:215255200-215257200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:215255200-215257200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:215255200-215258600	Active TSS	Fetal Brain Male	brain
19	chr1:215255200-215259000	Active TSS	NHDF-Ad	bronchial
20	chr1:215255400-215257000	Active TSS	Gastric	stomach
21	chr1:215255400-215257200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:215255400-215257200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
23	chr1:215255400-215257800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr1:215255600-215257000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:215255600-215257000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr1:215255600-215257200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:215255600-215257200	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr1:215255600-215257200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:215255600-215257200	Bivalent Enhancer	Placenta	Placenta
30	chr1:215255600-215257200	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr1:215255600-215257200	Bivalent/Poised TSS	A549	lung
32	chr1:215255600-215258400	Active TSS	Osteobl	bone
33	chr1:215255800-215256800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:215255800-215256800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:215255800-215256800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr1:215255800-215256800	Bivalent/Poised TSS	Ovary	ovary
37	chr1:215255800-215257000	Active TSS	Brain Angular Gyrus	brain
38	chr1:215255800-215257000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:215255800-215257200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:215255800-215257200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:215255800-215257200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr1:215255800-215257200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr1:215255800-215257200	Bivalent/Poised TSS	HepG2	liver
44	chr1:215255800-215257400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:215255800-215257400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr1:215255800-215258800	Active TSS	NHLF	lung
47	chr1:215256000-215256800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr1:215256000-215256800	Bivalent/Poised TSS	Esophagus	oesophagus
49	chr1:215256000-215256800	Active TSS	Right Atrium	heart
50	chr1:215256000-215256800	Bivalent/Poised TSS	NHEK	skin

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