Variant report

Variant	rs72649997
Chromosome Location	chr1:214454283-214454284
allele	A/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	chr1:214454197-214455599	Hela-S3	cervix:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
2	MYC	chr1:214454227-214455208	HepG2	liver:	n/a	chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
3	MAX	chr1:214453698-214454328	H1-hESC	embryonic stem cell:	n/a	chr1:214454214-214454224
4	STAT1	chr1:214454252-214454296	GM12878	blood:	n/a	n/a
5	JUND	chr1:214453410-214454768	K562	blood:	n/a	chr1:214453803-214453812
6	POLR2A	chr1:214453630-214455085	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr1:214453615-214455498	K562	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
8	POLR2A	chr1:214453277-214455603	GM12878	blood:	n/a	n/a
9	SMARCB1	chr1:214453671-214455484	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr1:214453779-214455249	K562	blood:	n/a	chr1:214454894-214454903
11	ZBTB7A	chr1:214453967-214455073	K562	blood:	n/a	n/a
12	MAX	chr1:214453537-214455686	HCT-116	colon:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
13	POLR2A	chr1:214454132-214455159	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:214453792-214455159	HepG2	liver:	n/a	n/a
15	GABPA	chr1:214453954-214455163	K562	blood:	n/a	chr1:214454894-214454903
16	POLR2A	chr1:214453231-214455483	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:214453721-214455660	K562	blood:	n/a	n/a
18	YY1	chr1:214454085-214455154	K562	blood:	n/a	chr1:214454894-214454903 chr1:214454801-214454815
19	POLR2A	chr1:214454079-214455193	HEK293	kidney:	n/a	n/a
20	HEY1	chr1:214454049-214454832	K562	blood:	n/a	n/a
21	TAF1	chr1:214454241-214454629	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:214452722-214455704	HepG2	liver:	n/a	n/a
23	RCOR1	chr1:214453828-214455055	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr1:214454059-214455399	K562	blood:	n/a	n/a
25	MAX	chr1:214453673-214455731	NB4	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
26	MYC	chr1:214454193-214455608	K562	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
27	TEAD4	chr1:214453609-214454428	K562	blood:	n/a	n/a
28	E2F1	chr1:214454098-214455183	Hela-S3	cervix:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
29	E2F6	chr1:214454075-214455089	K562	blood:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
30	TCF12	chr1:214454280-214455266	ECC-1	luminal epithelium:	n/a	n/a
31	TAF1	chr1:214454028-214455174	HepG2	liver:	n/a	n/a
32	HA-E2F1	chr1:214454084-214455180	Hela-S3	cervix:	n/a	chr1:214454834-214454844 chr1:214454894-214454903 chr1:214454894-214454906 chr1:214454139-214454149
33	EP300	chr1:214453815-214454323	HepG2	liver:	n/a	chr1:214453892-214453901
34	TCF12	chr1:214453455-214454376	A549	lung:	n/a	n/a
35	UBTF	chr1:214453940-214454802	K562	blood:	n/a	n/a
36	POLR2A	chr1:214453185-214455767	K562	blood:	n/a	n/a
37	POLR2A	chr1:214453747-214455026	H1-neurons	neurons:	n/a	n/a
38	RUNX3	chr1:214453633-214455600	GM12878	blood:	n/a	n/a
39	FOXP2	chr1:214454084-214455130	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr1:214453878-214454777	IMR90	lung:	n/a	n/a
41	RCOR1	chr1:214453801-214455501	K562	blood:	n/a	n/a
42	MAX	chr1:214453676-214455346	ECC-1	luminal epithelium:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
43	JUND	chr1:214454131-214454768	A549	lung:	n/a	n/a
44	CTCF	chr1:214454200-214454350	GM12866	blood:	n/a	n/a
45	CREB1	chr1:214454098-214455121	A549	lung:	n/a	n/a
46	EGR1	chr1:214454165-214454999	K562	blood:	n/a	chr1:214454893-214454903 chr1:214454889-214454902 chr1:214454801-214454811 chr1:214454840-214454849 chr1:214454786-214454800
47	ELK4	chr1:214454229-214454503	HEK293	kidney:	n/a	n/a
48	CHD2	chr1:214453918-214455320	GM12878	blood:	n/a	chr1:214454883-214454893 chr1:214454895-214454905
49	POLR2A	chr1:214453960-214455042	H1-neurons	neurons:	n/a	n/a
50	ELF1	chr1:214454000-214455204	GM12878	blood:	n/a	chr1:214454268-214454277

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214454282-214454332	HMEC	breast:	n/a
2	chr1:214454282-214454332	ProgFib	skin:	n/a
3	chr1:214454282-214454332	SK-N-SH_RA	brain:	n/a
4	chr1:214454282-214454332	AG09319	gingival:	n/a
5	chr1:214454282-214454332	SK-N-SH	brain:	n/a
6	chr1:214454282-214454332	HCT-116	colon:	n/a
7	chr1:214454282-214454332	NB4	blood:	n/a
8	chr1:214454282-214454332	AG04449	skin:	fetal
9	chr1:214454282-214454332	AG04450	lung:	fetal
10	chr1:214454282-214454332	SKMC	muscle:	n/a
11	chr1:214454282-214454332	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:214454282-214454332	HCM	heart:	n/a
13	chr1:214454282-214454332	ovcar-3	ovarian:	n/a
14	chr1:214454282-214454332	Jurkat	blood:	n/a
15	chr1:214454282-214454332	AG09309	skin:	n/a
16	chr1:214454282-214454332	RPTEC	kidney:	n/a
17	chr1:214454282-214454332	HRE	kidney:	n/a
18	chr1:214454282-214454332	K562	blood:	n/a
19	chr1:214454282-214454332	HRCEpiC	kidney:	n/a
20	chr1:214454282-214454332	HRPEpiC	eye:	n/a
21	chr1:214454282-214454332	HIPEpiC	eye:	n/a
22	chr1:214454282-214454332	HEEpiC	esophagus:	n/a
23	chr1:214454282-214454332	GM12878	blood:	n/a
24	chr1:214454282-214454332	NHBE	bronchial:	n/a
25	chr1:214454282-214454332	T-47D	breast:	n/a
26	chr1:214454282-214454332	PrEC	prostate:	n/a
27	chr1:214454282-214454332	NHDF-neo	bronchial:	n/a
28	chr1:214454282-214454332	HepG2	liver:	n/a
29	chr1:214454282-214454332	GM12891	blood:	n/a
30	chr1:214454282-214454332	SK-N-MC	brain:	n/a
31	chr1:214454282-214454332	BJ	skin:	n/a
32	chr1:214454282-214454332	HCPEpiC	choroid plexus:	n/a
33	chr1:214454282-214454332	A549	lung:	n/a
34	chr1:214454282-214454332	CMK	blood:	n/a
35	chr1:214454282-214454332	GM12892	blood:	n/a
36	chr1:214454282-214454332	HUVEC	blood vessel:	n/a
37	chr1:214454282-214454332	GM19239	blood:	n/a
38	chr1:214454282-214454332	NT2-D1	testis:	n/a
39	chr1:214454282-214454332	AG10803	skin:	n/a
40	chr1:214454282-214454332	AoSMC	blood vessel:	n/a
41	chr1:214454282-214454332	GM06990	blood:	n/a
42	chr1:214454282-214454332	HCF	heart:	n/a
43	chr1:214454282-214454332	HAEpiC	amniotic membrane:	n/a
44	chr1:214454282-214454332	Caco-2	colon:	n/a
45	chr1:214454282-214454332	BE2_C	brain:	n/a
46	chr1:214454282-214454332	NH-A	brain:	n/a
47	chr1:214454282-214454332	ECC-1	luminal epithelium:	n/a
48	chr1:214454282-214454332	MCF-7	breast:	n/a
49	chr1:214454282-214454332	HNPCEpiC	eye:	n/a
50	chr1:214454282-214454332	PANC-1	pancreas:	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
SMYD2	CpG island
ENSG00000143499	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000117724	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000100614	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72649995	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72649996	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]

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	chr1:214453200-214455000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:214453400-214455600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr1:214453400-214455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:214453400-214455600	Active TSS	NHLF	lung
6	chr1:214453400-214455800	Active TSS	Brain Substantia Nigra	brain
7	chr1:214453600-214454400	Flanking Active TSS	Dnd41	blood
8	chr1:214453600-214455000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214453600-214455200	Active TSS	Fetal Stomach	stomach
10	chr1:214453600-214455200	Active TSS	Pancreas	Pancrea
11	chr1:214453600-214455200	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:214453600-214455200	Active TSS	HSMM	muscle
13	chr1:214453600-214455400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:214453600-214455400	Active TSS	Fetal Brain Female	brain
15	chr1:214453600-214455600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:214453600-214455600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:214453600-214455600	Active TSS	Aorta	Aorta
18	chr1:214453800-214454600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:214453800-214454600	Active TSS	Right Atrium	heart
20	chr1:214453800-214455000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:214453800-214455000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:214453800-214455000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:214453800-214455000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:214453800-214455000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:214453800-214455000	Active TSS	Liver	Liver
26	chr1:214453800-214455200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:214453800-214455200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:214453800-214455200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:214453800-214455200	Active TSS	Brain Angular Gyrus	brain
30	chr1:214453800-214455200	Active TSS	Esophagus	oesophagus
31	chr1:214453800-214455200	Active TSS	Gastric	stomach
32	chr1:214453800-214455200	Active TSS	Lung	lung
33	chr1:214453800-214455200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:214453800-214455200	Active TSS	Small Intestine	intestine
35	chr1:214453800-214455200	Active TSS	NHDF-Ad	bronchial
36	chr1:214453800-214455400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:214453800-214455400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:214453800-214455400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:214453800-214455400	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:214453800-214455600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:214453800-214455600	Active TSS	Colonic Mucosa	Colon
42	chr1:214453800-214455600	Active TSS	Fetal Intestine Large	intestine
43	chr1:214453800-214455600	Active TSS	Fetal Intestine Small	intestine
44	chr1:214453800-214455600	Active TSS	Ovary	ovary
45	chr1:214453800-214455600	Active TSS	Psoas Muscle	Psoas
46	chr1:214453800-214455600	Active TSS	Stomach Mucosa	stomach
47	chr1:214453800-214455600	Active TSS	A549	lung
48	chr1:214453800-214455800	Active TSS	Colon Smooth Muscle	Colon
49	chr1:214453800-214455800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:214453800-214456000	Active TSS	Pancreatic Islets	Pancreatic Islet

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