Variant report

Variant	rs34338022
Chromosome Location	chr2:209130815-209130816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:600)
CpG islands
(count:183)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:209130611-209130906	HepG2	liver:	n/a	n/a
2	MBD4	chr2:209129927-209131651	HepG2	liver:	n/a	n/a
3	CREB1	chr2:209130155-209131109	ECC-1	luminal epithelium:	n/a	n/a
4	JUND	chr2:209130318-209130961	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:209130216-209131085	HepG2	liver:	n/a	n/a
6	USF1	chr2:209130076-209131203	ECC-1	luminal epithelium:	n/a	n/a
7	ATF2	chr2:209130444-209130998	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr2:209130579-209131113	GM12891	blood:	n/a	n/a
9	TAF1	chr2:209130526-209131370	HepG2	liver:	n/a	n/a
10	REST	chr2:209130803-209131080	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr2:209129765-209131669	GM12878	blood:	n/a	n/a
12	YY1	chr2:209130504-209131328	GM12878	blood:	n/a	chr2:209131242-209131256
13	ZBTB7A	chr2:209130620-209131215	K562	blood:	n/a	n/a
14	POLR2A	chr2:209130611-209131413	Hela-S3	cervix:	n/a	n/a
15	JUND	chr2:209130487-209131093	A549	lung:	n/a	n/a
16	GTF2B	chr2:209130472-209131119	K562	blood:	n/a	n/a
17	POLR2A	chr2:209130039-209131427	K562	blood:	n/a	n/a
18	ZBTB7A	chr2:209130592-209131259	HepG2	liver:	n/a	n/a
19	GTF2F1	chr2:209130635-209131067	K562	blood:	n/a	n/a
20	USF1	chr2:209130526-209131082	SK-N-SH_RA	brain:	n/a	n/a
21	MAX	chr2:209130016-209131566	ECC-1	luminal epithelium:	n/a	chr2:209130353-209130362
22	MYC	chr2:209129863-209131263	K562	blood:	n/a	chr2:209130353-209130362
23	CTCF	chr2:209130760-209130910	HFF	foreskin:	n/a	n/a
24	SPI1	chr2:209130737-209131187	GM12891	blood:	n/a	chr2:209130966-209130979
25	EGR1	chr2:209130646-209131136	GM12878	blood:	n/a	n/a
26	GATA1	chr2:209129668-209131288	K562	blood:	n/a	chr2:209130018-209130025 chr2:209130324-209130332
27	POLR2A	chr2:209129927-209131567	GM12892	blood:	n/a	n/a
28	YY1	chr2:209130567-209131064	HCT-116	colon:	n/a	n/a
29	HNF4G	chr2:209130465-209131062	HepG2	liver:	n/a	chr2:209130751-209130758 chr2:209130747-209130763
30	ATF3	chr2:209130496-209131098	A549	lung:	n/a	n/a
31	POLR2A	chr2:209129919-209131492	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:209130547-209131416	MCF-7	breast:	n/a	n/a
33	MAX	chr2:209130545-209130895	K562	blood:	n/a	n/a
34	SP1	chr2:209129960-209131238	HCT-116	colon:	n/a	chr2:209130960-209130973 chr2:209130951-209130963
35	POLR2A	chr2:209130466-209131378	GM12878	blood:	n/a	n/a
36	PML	chr2:209130466-209131130	K562	blood:	n/a	n/a
37	FOXA1	chr2:209130540-209131037	T-47D	breast:	n/a	n/a
38	HNF4A	chr2:209130518-209131212	HepG2	liver:	n/a	chr2:209130751-209130758 chr2:209130747-209130763
39	BACH1	chr2:209130552-209130932	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr2:209130391-209131254	MCF-7	breast:	n/a	n/a
41	NR3C1	chr2:209130549-209130905	A549	lung:	n/a	n/a
42	TCF12	chr2:209130612-209130912	H1-hESC	embryonic stem cell:	n/a	n/a
43	ELK1	chr2:209130531-209131114	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:209129908-209131339	ProgFib	skin:	n/a	n/a
45	HNF4A	chr2:209130508-209131154	HepG2	liver:	n/a	chr2:209130751-209130758 chr2:209130747-209130763
46	POLR2A	chr2:209129665-209132065	GM12891	blood:	n/a	n/a
47	ELF1	chr2:209130488-209131208	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:209130046-209131501	GM15510	blood:	n/a	n/a
49	SMC3	chr2:209130745-209130896	K562	blood:	n/a	n/a
50	FOXA2	chr2:209130562-209131166	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209130814-209130864	HRCEpiC	kidney:	n/a
2	chr2:209130814-209130864	T-47D	breast:	n/a
3	chr2:209130779-209130829	SKMC	muscle:	n/a
4	chr2:209130779-209130829	H1-hESC	embryonic stem cell:	embryo
5	chr2:209130814-209130864	Caco-2	colon:	n/a
6	chr2:209130777-209130827	Jurkat	blood:	n/a
7	chr2:209130814-209130864	LNCaP	prostate:	n/a
8	chr2:209130779-209130829	T-47D	breast:	n/a
9	chr2:209130814-209130864	SKMC	muscle:	n/a
10	chr2:209130779-209130829	CMK	blood:	n/a
11	chr2:209130777-209130827	HCF	heart:	n/a
12	chr2:209130814-209130864	NH-A	brain:	n/a
13	chr2:209130814-209130864	HCT-116	colon:	n/a
14	chr2:209130779-209130829	HNPCEpiC	eye:	n/a
15	chr2:209130777-209130827	HAEpiC	amniotic membrane:	n/a
16	chr2:209130777-209130827	HRCEpiC	kidney:	n/a
17	chr2:209130814-209130864	NHBE	bronchial:	n/a
18	chr2:209130777-209130827	HNPCEpiC	eye:	n/a
19	chr2:209130777-209130827	AG10803	skin:	n/a
20	chr2:209130814-209130864	ECC-1	luminal epithelium:	n/a
21	chr2:209130779-209130829	HAEpiC	amniotic membrane:	n/a
22	chr2:209130777-209130827	HUVEC	blood vessel:	n/a
23	chr2:209130814-209130864	AG04449	skin:	fetal
24	chr2:209130779-209130829	HL-60	blood:	n/a
25	chr2:209130777-209130827	PANC-1	pancreas:	n/a
26	chr2:209130779-209130829	HCPEpiC	choroid plexus:	n/a
27	chr2:209130814-209130864	NB4	blood:	n/a
28	chr2:209130814-209130864	CMK	blood:	n/a
29	chr2:209130814-209130864	H1-hESC	embryonic stem cell:	embryo
30	chr2:209130777-209130827	HIPEpiC	eye:	n/a
31	chr2:209130777-209130827	Caco-2	colon:	n/a
32	chr2:209130777-209130827	A549	lung:	n/a
33	chr2:209130777-209130827	HRPEpiC	eye:	n/a
34	chr2:209130779-209130829	HUVEC	blood vessel:	n/a
35	chr2:209130777-209130827	BE2_C	brain:	n/a
36	chr2:209130779-209130829	GM12878	blood:	n/a
37	chr2:209130779-209130829	HMEC	breast:	n/a
38	chr2:209130777-209130827	K562	blood:	n/a
39	chr2:209130814-209130864	MCF-7	breast:	n/a
40	chr2:209130779-209130829	LNCaP	prostate:	n/a
41	chr2:209130779-209130829	HRE	kidney:	n/a
42	chr2:209130779-209130829	SK-N-SH_RA	brain:	n/a
43	chr2:209130814-209130864	HEK293	kidney:	embryo
44	chr2:209130814-209130864	HEEpiC	esophagus:	n/a
45	chr2:209130777-209130827	NH-A	brain:	n/a
46	chr2:209130814-209130864	K562	blood:	n/a
47	chr2:209130779-209130829	GM12892	blood:	n/a
48	chr2:209130777-209130827	HEEpiC	esophagus:	n/a
49	chr2:209130777-209130827	SK-N-MC	brain:	n/a
50	chr2:209130779-209130829	HIPEpiC	eye:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209130521..209131243-chr8:23314842..23315390,2	Hela-S3	cervix:
2	chr1:28832504..28833487-chr2:209130651..209131371,2	Hela-S3	cervix:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
4	chr1:87793559..87794463-chr2:209130596..209131219,2	NB4	blood:
5	chr2:209119063..209119975-chr2:209130358..209131188,2	K562	blood:
6	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
7	chr2:209119923..209123053-chr2:209129009..209130826,3	MCF-7	breast:
8	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
9	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
10	chr2:209119136..209119874-chr2:209130641..209131606,2	MCF-7	breast:
11	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:

No data

Variant related genes	Relation type
PIKFYVE	TF binding region
IDH1	TF binding region
PIKFYVE	CpG island
IDH1	CpG island
ENSG00000197217	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000143013	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000228380	Chromatin interaction
ENSG00000231908	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11893137	1.00[EUR][1000 genomes]
rs11900211	1.00[EUR][1000 genomes]
rs13015438	1.00[EUR][1000 genomes]
rs13020468	1.00[EUR][1000 genomes]
rs13034777	1.00[EUR][1000 genomes]
rs16840789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16840791	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16840793	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16840911	0.90[EUR][1000 genomes]
rs16840913	1.00[EUR][1000 genomes]
rs16841273	1.00[AMR][1000 genomes]
rs34366347	1.00[EUR][1000 genomes]
rs34757991	1.00[AMR][1000 genomes]
rs55849328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71418672	1.00[EUR][1000 genomes]
rs71418679	1.00[EUR][1000 genomes]
rs71418693	1.00[AMR][1000 genomes]
rs73983726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73983759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578542	1.00[EUR][1000 genomes]
rs7579320	1.00[EUR][1000 genomes]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr2:209129600-209132000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:209129800-209131400	Active TSS	Colonic Mucosa	Colon
3	chr2:209129800-209131600	Active TSS	Esophagus	oesophagus
4	chr2:209129800-209132800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:209129800-209132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:209129800-209133000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:209129800-209133000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:209130000-209131800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:209130000-209132000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:209130000-209132200	Active TSS	Aorta	Aorta
11	chr2:209130000-209132200	Active TSS	Right Ventricle	heart
12	chr2:209130000-209132400	Active TSS	Psoas Muscle	Psoas
13	chr2:209130000-209132600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:209130000-209132600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:209130000-209132600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:209130000-209132800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:209130000-209132800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:209130000-209132800	Active TSS	Ovary	ovary
19	chr2:209130200-209131000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:209130200-209131600	Active TSS	Brain Angular Gyrus	brain
21	chr2:209130200-209131600	Active TSS	Brain Anterior Caudate	brain
22	chr2:209130200-209131600	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:209130200-209131600	Active TSS	Pancreas	Pancrea
24	chr2:209130200-209131600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:209130200-209131600	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:209130200-209131800	Active TSS	Brain Germinal Matrix	brain
27	chr2:209130200-209131800	Active TSS	Brain Hippocampus Middle	brain
28	chr2:209130200-209131800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:209130200-209131800	Active TSS	Brain Substantia Nigra	brain
30	chr2:209130200-209131800	Active TSS	Gastric	stomach
31	chr2:209130200-209131800	Active TSS	Left Ventricle	heart
32	chr2:209130200-209131800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr2:209130200-209132000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:209130200-209132000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:209130200-209132000	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:209130200-209132000	Bivalent/Poised TSS	HepG2	liver
37	chr2:209130200-209132200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:209130200-209132200	Active TSS	Fetal Intestine Small	intestine
39	chr2:209130200-209132200	Active TSS	A549	lung
40	chr2:209130200-209132400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:209130200-209132400	Active TSS	Fetal Intestine Large	intestine
42	chr2:209130200-209132400	Active TSS	Right Atrium	heart
43	chr2:209130200-209132400	Active TSS	Dnd41	blood
44	chr2:209130200-209132600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:209130200-209132600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:209130200-209132600	Active TSS	Colon Smooth Muscle	Colon
47	chr2:209130200-209132800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:209130200-209132800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:209130200-209132800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:209130200-209133400	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links