Variant report

Variant	rs12747319
Chromosome Location	chr1:215256199-215256200
allele	G/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	POLR2A	chr1:215256152-215256263	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:215255792-215256454	H1-neurons	neurons:	n/a	n/a
3	MAX	chr1:215255863-215256470	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr1:215255908-215256357	H1-hESC	embryonic stem cell:	n/a	chr1:215256283-215256297
5	EGR1	chr1:215256180-215256321	GM12878	blood:	n/a	chr1:215256283-215256297
6	MAX	chr1:215255827-215256412	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr1:215255832-215256522	IMR90	lung:	n/a	chr1:215256125-215256138 chr1:215255923-215255933 chr1:215256326-215256339 chr1:215256488-215256501
8	MAX	chr1:215255837-215256395	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr1:215256151-215256332	K562	blood:	n/a	chr1:215256283-215256297
10	E2F6	chr1:215255790-215256330	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:215256060-215256210	WERI-Rb-1	eye:	n/a	n/a
12	SIN3AK20	chr1:215255694-215257396	MCF-7	breast:	n/a	n/a
13	CTBP2	chr1:215255151-215256317	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:215256145-215256228	MCF-7	breast:	n/a	n/a
15	MAZ	chr1:215255617-215257431	IMR90	lung:	n/a	chr1:215256538-215256548 chr1:215256544-215256554
16	SIN3A	chr1:215255806-215256257	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr1:215255517-215257345	IMR90	lung:	n/a	n/a
18	RAD21	chr1:215255980-215256213	H1-hESC	embryonic stem cell:	n/a	chr1:215256125-215256138
19	ZNF263	chr1:215255885-215256302	HEK293-T-REx	kidney:	n/a	chr1:215256042-215256051 chr1:215256054-215256075 chr1:215255892-215255901
20	MYC	chr1:215255959-215256463	MCF-7	breast:	n/a	n/a
21	REST	chr1:215255587-215257488	H1-neurons	neurons:	n/a	chr1:215256946-215256959 chr1:215257126-215257146 chr1:215257132-215257146
22	POLR2A	chr1:215255932-215256325	IMR90	lung:	n/a	n/a
23	POLR2A	chr1:215255621-215256465	ProgFib	skin:	n/a	n/a
24	CTCF	chr1:215256060-215256210	AoAF	blood vessel:	n/a	n/a
25	POLR2A	chr1:215255555-215256408	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr1:215255676-215256365	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KCNK2	TF binding region

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:98 , 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	chr1:215255000-215256200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
6	chr1:215255000-215256800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr1:215255000-215257000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr1:215255000-215257200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr1:215255000-215257200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:215255000-215257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:215255000-215257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:215255000-215258400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:215255200-215256200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr1:215255200-215256800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:215255200-215256800	Active TSS	Brain Anterior Caudate	brain
16	chr1:215255200-215257000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:215255200-215257000	Enhancers	Spleen	Spleen
18	chr1:215255200-215257200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:215255200-215257200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:215255200-215258600	Active TSS	Fetal Brain Male	brain
21	chr1:215255200-215259000	Active TSS	NHDF-Ad	bronchial
22	chr1:215255400-215256200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:215255400-215256200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr1:215255400-215256600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr1:215255400-215257000	Active TSS	Gastric	stomach
26	chr1:215255400-215257200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:215255400-215257200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr1:215255400-215257800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:215255600-215256200	Bivalent Enhancer	Lung	lung
36	chr1:215255600-215256200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr1:215255600-215256200	Bivalent/Poised TSS	HSMM	muscle
38	chr1:215255600-215256400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:215255600-215256400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:215255600-215257000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:215255600-215257000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr1:215255600-215257200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:215255600-215257200	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr1:215255600-215257200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:215255600-215257200	Bivalent Enhancer	Placenta	Placenta
46	chr1:215255600-215257200	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr1:215255600-215257200	Bivalent/Poised TSS	A549	lung
48	chr1:215255600-215258400	Active TSS	Osteobl	bone
49	chr1:215255800-215256200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr1:215255800-215256200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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