Variant report

Variant	rs559255781
Chromosome Location	chr1:214454187-214454188
allele	C/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	MAX	chr1:214453698-214454328	H1-hESC	embryonic stem cell:	n/a	chr1:214454214-214454224
2	JUND	chr1:214453410-214454768	K562	blood:	n/a	chr1:214453803-214453812
3	POLR2A	chr1:214453630-214455085	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr1:214453615-214455498	K562	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
5	POLR2A	chr1:214453277-214455603	GM12878	blood:	n/a	n/a
6	SMARCB1	chr1:214453671-214455484	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr1:214453779-214455249	K562	blood:	n/a	chr1:214454894-214454903
8	ZBTB7A	chr1:214453967-214455073	K562	blood:	n/a	n/a
9	MAX	chr1:214453537-214455686	HCT-116	colon:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
10	POLR2A	chr1:214454132-214455159	GM12891	blood:	n/a	n/a
11	POLR2A	chr1:214453792-214455159	HepG2	liver:	n/a	n/a
12	GABPA	chr1:214453954-214455163	K562	blood:	n/a	chr1:214454894-214454903
13	POLR2A	chr1:214453231-214455483	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:214453721-214455660	K562	blood:	n/a	n/a
15	YY1	chr1:214454085-214455154	K562	blood:	n/a	chr1:214454894-214454903 chr1:214454801-214454815
16	POLR2A	chr1:214454079-214455193	HEK293	kidney:	n/a	n/a
17	HEY1	chr1:214454049-214454832	K562	blood:	n/a	n/a
18	POLR2A	chr1:214452722-214455704	HepG2	liver:	n/a	n/a
19	RCOR1	chr1:214453828-214455055	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr1:214454059-214455399	K562	blood:	n/a	n/a
21	MAX	chr1:214453673-214455731	NB4	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
22	TEAD4	chr1:214453609-214454428	K562	blood:	n/a	n/a
23	E2F1	chr1:214454098-214455183	Hela-S3	cervix:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
24	E2F6	chr1:214454075-214455089	K562	blood:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
25	TAF1	chr1:214454028-214455174	HepG2	liver:	n/a	n/a
26	HA-E2F1	chr1:214454084-214455180	Hela-S3	cervix:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
27	NR2F2	chr1:214453687-214454220	K562	blood:	n/a	n/a
28	EP300	chr1:214453815-214454323	HepG2	liver:	n/a	chr1:214453892-214453901
29	TCF12	chr1:214453455-214454376	A549	lung:	n/a	n/a
30	UBTF	chr1:214453940-214454802	K562	blood:	n/a	n/a
31	CTCF	chr1:214454060-214454210	HEK293	kidney:	n/a	n/a
32	POLR2A	chr1:214453185-214455767	K562	blood:	n/a	n/a
33	POLR2A	chr1:214453747-214455026	H1-neurons	neurons:	n/a	n/a
34	RUNX3	chr1:214453633-214455600	GM12878	blood:	n/a	n/a
35	RCOR1	chr1:214453982-214454281	GM12878	blood:	n/a	n/a
36	FOXP2	chr1:214454084-214455130	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr1:214453878-214454777	IMR90	lung:	n/a	n/a
38	CTCF	chr1:214454080-214454230	GM12874	blood:	n/a	n/a
39	RCOR1	chr1:214453801-214455501	K562	blood:	n/a	n/a
40	CTCF	chr1:214454040-214454190	NHLF	lung:	n/a	n/a
41	MAX	chr1:214453676-214455346	ECC-1	luminal epithelium:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
42	JUND	chr1:214454131-214454768	A549	lung:	n/a	n/a
43	CREB1	chr1:214454098-214455121	A549	lung:	n/a	n/a
44	EGR1	chr1:214454165-214454999	K562	blood:	n/a	chr1:214454893-214454903 chr1:214454889-214454902 chr1:214454801-214454811 chr1:214454840-214454849 chr1:214454786-214454800
45	CHD2	chr1:214453918-214455320	GM12878	blood:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
46	POLR2A	chr1:214453960-214455042	H1-neurons	neurons:	n/a	n/a
47	ELF1	chr1:214454000-214455204	GM12878	blood:	n/a	chr1:214454268-214454277
48	CHD2	chr1:214453728-214454289	K562	blood:	n/a	n/a
49	SIN3A	chr1:214453724-214455328	H1-hESC	embryonic stem cell:	n/a	chr1:214454033-214454044
50	MXI1	chr1:214453333-214455966	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:
2	chr1:214453905..214454596-chr14:60715764..60716495,2	Hela-S3	cervix:
3	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
4	chr1:214453776..214454417-chr16:75657150..75657683,2	NB4	blood:
5	chr1:214452363..214454335-chr1:214775239..214777094,2	K562	blood:
6	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
7	chr1:214451440..214454352-chr1:214497231..214500800,3	K562	blood:

Variant related genes	Relation type
SMYD2	TF binding region
ENSG00000143499	Chromatin interaction
ENSG00000117724	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000100614	Chromatin interaction
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366467	chr1:214453679-214455877	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:214453200-214455000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:214453400-214454200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:214453400-214454200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:214453400-214454200	Flanking Active TSS	Fetal Brain Male	brain
12	chr1:214453400-214454200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:214453400-214455600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr1:214453400-214455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:214453400-214455600	Active TSS	NHLF	lung
16	chr1:214453400-214455800	Active TSS	Brain Substantia Nigra	brain
17	chr1:214453600-214454200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:214453600-214454200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:214453600-214454200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr1:214453600-214454200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:214453600-214454200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:214453600-214454200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr1:214453600-214454200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:214453600-214454200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr1:214453600-214454200	Flanking Active TSS	Thymus	Thymus
26	chr1:214453600-214454200	Flanking Active TSS	GM12878-XiMat	blood
27	chr1:214453600-214454200	Flanking Active TSS	Hela-S3	cervix
28	chr1:214453600-214454200	Flanking Active TSS	HUVEC	blood vessel
29	chr1:214453600-214454200	Flanking Active TSS	K562	blood
30	chr1:214453600-214454200	Flanking Active TSS	NH-A	brain
31	chr1:214453600-214454200	Flanking Active TSS	Osteobl	bone
32	chr1:214453600-214454400	Flanking Active TSS	Dnd41	blood
33	chr1:214453600-214455000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:214453600-214455200	Active TSS	Fetal Stomach	stomach
35	chr1:214453600-214455200	Active TSS	Pancreas	Pancrea
36	chr1:214453600-214455200	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:214453600-214455200	Active TSS	HSMM	muscle
38	chr1:214453600-214455400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:214453600-214455400	Active TSS	Fetal Brain Female	brain
40	chr1:214453600-214455600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:214453600-214455600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:214453600-214455600	Active TSS	Aorta	Aorta
43	chr1:214453800-214454200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:214453800-214454200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:214453800-214454200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:214453800-214454200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr1:214453800-214454200	Flanking Active TSS	Placenta	Placenta
48	chr1:214453800-214454200	Flanking Active TSS	Fetal Thymus	thymus
49	chr1:214453800-214454600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:214453800-214454600	Active TSS	Right Atrium	heart

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