Variant report

Variant	rs35628624
Chromosome Location	chr1:222791222-222791223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222790813-222791227	ECC-1	luminal epithelium:	n/a	n/a
2	MXI1	chr1:222790840-222791624	GM12878	blood:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
3	POLR2A	chr1:222790926-222791658	K562	blood:	n/a	n/a
4	TEAD4	chr1:222790990-222791264	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMARCB1	chr1:222790794-222792564	Hela-S3	cervix:	n/a	n/a
6	MAX	chr1:222790750-222791293	H1-hESC	embryonic stem cell:	n/a	chr1:222791038-222791047
7	NRF1	chr1:222790946-222791236	GM12878	blood:	n/a	chr1:222790947-222790956 chr1:222791171-222791180
8	POLR2A	chr1:222790732-222791674	HEK293	kidney:	n/a	n/a
9	POLR2A	chr1:222790969-222791241	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:222790384-222791290	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr1:222790497-222791857	SK-N-SH	brain:	n/a	chr1:222791173-222791182 chr1:222790508-222790518
12	YY1	chr1:222790917-222791777	NT2-D1	testis:	n/a	chr1:222791173-222791182
13	CHD2	chr1:222790921-222791899	Hela-S3	cervix:	n/a	n/a
14	RUNX3	chr1:222790833-222791231	GM12878	blood:	n/a	chr1:222790874-222790889
15	MAX	chr1:222790771-222791250	K562	blood:	n/a	chr1:222791038-222791047
16	POLR2A	chr1:222790932-222791241	HepG2	liver:	n/a	n/a
17	EGR1	chr1:222791098-222791251	GM12878	blood:	n/a	n/a
18	RCOR1	chr1:222790850-222791634	K562	blood:	n/a	n/a
19	HEY1	chr1:222790866-222791245	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:222790693-222791704	GM18951	blood:	n/a	n/a
21	POLR2A	chr1:222790788-222791805	ProgFib	skin:	n/a	n/a
22	PBX3	chr1:222790910-222791223	GM12878	blood:	n/a	chr1:222791089-222791098
23	POLR2A	chr1:222790625-222791246	U87	brain:	n/a	n/a
24	POLR2A	chr1:222790821-222791716	HUVEC	blood vessel:	n/a	n/a
25	CREB1	chr1:222790611-222791274	A549	lung:	n/a	chr1:222791136-222791149
26	POLR2A	chr1:222790711-222791715	GM19193	blood:	n/a	n/a
27	TBP	chr1:222790757-222791703	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:222790890-222791228	A549	lung:	n/a	chr1:222791038-222791047
29	RCOR1	chr1:222790967-222791244	HepG2	liver:	n/a	n/a
30	TAF1	chr1:222790811-222791272	ECC-1	luminal epithelium:	n/a	n/a
31	USF1	chr1:222790778-222791273	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr1:222790859-222792630	K562	blood:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415
33	CTCF	chr1:222791080-222791230	AG04449	skin:	n/a	n/a
34	POLR2A	chr1:222790758-222791642	GM12878	blood:	n/a	n/a
35	TAF1	chr1:222791190-222791630	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:222790842-222791252	A549	lung:	n/a	n/a
37	MYC	chr1:222790961-222792576	K562	blood:	n/a	chr1:222791038-222791047 chr1:222791868-222791878 chr1:222791405-222791415
38	ZNF143	chr1:222791026-222791810	GM12878	blood:	n/a	chr1:222791791-222791801 chr1:222791171-222791181
39	CREB1	chr1:222790679-222791728	H1-hESC	embryonic stem cell:	n/a	chr1:222791136-222791149
40	MYC	chr1:222791103-222791238	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:222790929-222791230	HCT-116	colon:	n/a	n/a
42	REST	chr1:222790391-222792363	H1-neurons	neurons:	n/a	chr1:222792129-222792142 chr1:222792014-222792032 chr1:222791917-222791924 chr1:222791990-222792003 chr1:222792016-222792029
43	MAX	chr1:222790751-222791281	A549	lung:	n/a	chr1:222791038-222791047
44	UBTF	chr1:222790970-222792549	K562	blood:	n/a	n/a
45	POLR2A	chr1:222790791-222791227	HUVEC	blood vessel:	n/a	n/a
46	NFYB	chr1:222790664-222791256	GM12878	blood:	n/a	chr1:222791015-222791030
47	USF1	chr1:222790743-222791257	ECC-1	luminal epithelium:	n/a	n/a
48	TAF1	chr1:222790764-222791237	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr1:222790808-222791236	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr1:222790606-222791672	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222791172-222791222	HRPEpiC	eye:	n/a
2	chr1:222791172-222791222	NH-A	brain:	n/a
3	chr1:222791172-222791222	PrEC	prostate:	n/a
4	chr1:222791172-222791222	SK-N-SH_RA	brain:	n/a
5	chr1:222791172-222791222	HAEpiC	amniotic membrane:	n/a
6	chr1:222791172-222791222	NB4	blood:	n/a
7	chr1:222791172-222791222	LNCaP	prostate:	n/a
8	chr1:222791172-222791222	NT2-D1	testis:	n/a
9	chr1:222791172-222791222	T-47D	breast:	n/a
10	chr1:222791172-222791222	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:222791172-222791222	IMR90	lung:	fetal
12	chr1:222791172-222791222	HEEpiC	esophagus:	n/a
13	chr1:222791172-222791222	NHDF-neo	bronchial:	n/a
14	chr1:222791172-222791222	GM12878	blood:	n/a
15	chr1:222791172-222791222	NHBE	bronchial:	n/a
16	chr1:222791172-222791222	AG09319	gingival:	n/a
17	chr1:222791172-222791222	GM12892	blood:	n/a
18	chr1:222791172-222791222	Jurkat	blood:	n/a
19	chr1:222791172-222791222	MCF10A-Er-Src	breast:	n/a
20	chr1:222791172-222791222	HEK293	kidney:	embryo
21	chr1:222791172-222791222	SK-N-SH	brain:	n/a
22	chr1:222791172-222791222	K562	blood:	n/a
23	chr1:222791172-222791222	HCT-116	colon:	n/a
24	chr1:222791172-222791222	AG09309	skin:	n/a
25	chr1:222791172-222791222	HL-60	blood:	n/a
26	chr1:222791172-222791222	PANC-1	pancreas:	n/a
27	chr1:222791172-222791222	ECC-1	luminal epithelium:	n/a
28	chr1:222791172-222791222	HRE	kidney:	n/a
29	chr1:222791172-222791222	HepG2	liver:	n/a
30	chr1:222791172-222791222	HCM	heart:	n/a
31	chr1:222791172-222791222	ovcar-3	ovarian:	n/a
32	chr1:222791172-222791222	Caco-2	colon:	n/a
33	chr1:222791172-222791222	BE2_C	brain:	n/a
34	chr1:222791172-222791222	HNPCEpiC	eye:	n/a
35	chr1:222791172-222791222	HIPEpiC	eye:	n/a
36	chr1:222791172-222791222	HUVEC	blood vessel:	n/a
37	chr1:222791172-222791222	A549	lung:	n/a
38	chr1:222791172-222791222	SKMC	muscle:	n/a
39	chr1:222791172-222791222	ProgFib	skin:	n/a
40	chr1:222791172-222791222	AoSMC	blood vessel:	n/a
41	chr1:222791172-222791222	GM19239	blood:	n/a
42	chr1:222791172-222791222	GM12891	blood:	n/a
43	chr1:222791172-222791222	AG04450	lung:	fetal
44	chr1:222791172-222791222	RPTEC	kidney:	n/a
45	chr1:222791172-222791222	U87	brain:	n/a
46	chr1:222791172-222791222	BJ	skin:	n/a
47	chr1:222791172-222791222	MCF-7	breast:	n/a
48	chr1:222791172-222791222	GM06990	blood:	n/a
49	chr1:222791172-222791222	HCF	heart:	n/a
50	chr1:222791172-222791222	HCPEpiC	choroid plexus:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
2	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
3	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
4	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
5	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
6	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
7	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
8	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
9	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
10	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

No data

Variant related genes	Relation type
MIA3	TF binding region
MIA3	CpG island
ENSG00000154305	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000225265	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	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	chr1:222790400-222791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:222790400-222792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:222790400-222792200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:222790400-222792400	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:222790400-222792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:222790400-222792600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:222790400-222792600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:222790400-222792800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:222790400-222792800	Active TSS	Ovary	ovary
10	chr1:222790400-222793000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:222790600-222791400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:222790600-222792200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:222790600-222792200	Active TSS	Fetal Brain Female	brain
14	chr1:222790600-222792400	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:222790600-222792400	Active TSS	Brain Substantia Nigra	brain
16	chr1:222790600-222792400	Active TSS	Placenta Amnion	Placenta Amnion
17	chr1:222790600-222792400	Active TSS	Right Ventricle	heart
18	chr1:222790600-222792600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:222790600-222792600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:222790600-222792600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:222790600-222792600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:222790600-222792600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:222790600-222792600	Active TSS	Aorta	Aorta
24	chr1:222790600-222792800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:222790600-222792800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:222790600-222792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:222790600-222792800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:222790600-222792800	Active TSS	Fetal Kidney	kidney
29	chr1:222790600-222792800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:222790600-222793000	Active TSS	Pancreas	Pancrea
31	chr1:222790600-222793000	Active TSS	Right Atrium	heart
32	chr1:222790600-222793000	Active TSS	HSMMtube	muscle
33	chr1:222790600-222793200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:222790800-222792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:222790800-222792000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:222790800-222792000	Active TSS	Spleen	Spleen
37	chr1:222790800-222792200	Active TSS	Primary T cells from cord blood	blood
38	chr1:222790800-222792200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:222790800-222792200	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:222790800-222792200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:222790800-222792200	Active TSS	Brain Angular Gyrus	brain
42	chr1:222790800-222792200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:222790800-222792200	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:222790800-222792200	Active TSS	Thymus	Thymus
45	chr1:222790800-222792200	Active TSS	Hela-S3	cervix
46	chr1:222790800-222792400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:222790800-222792400	Active TSS	Brain Anterior Caudate	brain
48	chr1:222790800-222792400	Active TSS	Esophagus	oesophagus
49	chr1:222790800-222792400	Active TSS	Left Ventricle	heart
50	chr1:222790800-222792400	Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links