Variant report

Variant	rs34054023
Chromosome Location	chr1:211828621-211828622
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	MXI1	chr1:211828563-211828998	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:211828620-211828770	NHDF-neo	bronchial:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
3	RAD21	chr1:211828419-211828969	SK-N-SH_RA	brain:	n/a	chr1:211828721-211828740
4	CTCF	chr1:211828585-211828871	Hela-S3	cervix:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
5	CTCFL	chr1:211828616-211828816	K562	blood:	n/a	n/a
6	IRF4	chr1:211828501-211828907	GM12878	blood:	n/a	n/a
7	CTCF	chr1:211828620-211828770	HCT-116	colon:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
8	CTCF	chr1:211828494-211828911	T-47D	breast:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
9	CBX3	chr1:211828398-211828930	K562	blood:	n/a	n/a
10	CTCF	chr1:211828377-211829108	A549	lung:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
11	MAZ	chr1:211828563-211828821	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:211828556-211828904	HepG2	liver:	n/a	n/a
13	MYBL2	chr1:211828446-211828913	HepG2	liver:	n/a	n/a
14	MAZ	chr1:211828147-211829080	IMR90	lung:	n/a	chr1:211828249-211828258
15	REST	chr1:211828536-211828806	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:211828566-211828821	Hela-S3	cervix:	n/a	n/a
17	MYC	chr1:211828439-211828835	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr1:211828466-211828897	K562	blood:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
19	RAD21	chr1:211828514-211828914	K562	blood:	n/a	chr1:211828721-211828740
20	CHD2	chr1:211828495-211828824	GM12878	blood:	n/a	n/a
21	JUND	chr1:211828477-211828996	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr1:211828488-211828929	H1-hESC	embryonic stem cell:	n/a	chr1:211828721-211828740
23	POLR2A	chr1:211826517-211829499	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr1:211828017-211829192	SK-N-SH	brain:	n/a	chr1:211828725-211828739
25	CTCF	chr1:211828575-211828873	GM12892	blood:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
26	CTCF	chr1:211828603-211828854	H1-hESC	embryonic stem cell:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
27	YY1	chr1:211828576-211828887	GM12878	blood:	n/a	n/a
28	CTCF	chr1:211828600-211828864	ProgFib	skin:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
29	RAD21	chr1:211828420-211828918	HepG2	liver:	n/a	chr1:211828721-211828740
30	CTCF	chr1:211828581-211828875	Gliobla	brain:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
31	MAZ	chr1:211828294-211828876	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr1:211828569-211828872	HUVEC	blood vessel:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
33	CTCF	chr1:211828573-211828884	GM19238	blood:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
34	CTCF	chr1:211828599-211828867	GM13977	blood:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
35	CTCF	chr1:211828620-211828770	Hela-S3	cervix:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
36	BHLHE40	chr1:211828540-211828848	GM12878	blood:	n/a	n/a
37	FOXA1	chr1:211828557-211828841	T-47D	breast:	n/a	n/a
38	CTCF	chr1:211828620-211828770	NHEK	skin:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
39	RAD21	chr1:211828445-211829032	ECC-1	luminal epithelium:	n/a	chr1:211828721-211828740
40	FOXM1	chr1:211828473-211828931	GM12878	blood:	n/a	n/a
41	MAZ	chr1:211828516-211828882	GM12878	blood:	n/a	n/a
42	CTCF	chr1:211828453-211828978	K562	blood:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
43	POU2F2	chr1:211828538-211828881	GM12891	blood:	n/a	n/a
44	CEBPB	chr1:211828474-211828880	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:211828620-211828770	HRPEpiC	eye:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
46	MYC	chr1:211828458-211828927	NB4	blood:	n/a	n/a
47	SMC3	chr1:211828313-211828996	K562	blood:	n/a	chr1:211828725-211828739
48	RAD21	chr1:211828368-211829079	A549	lung:	n/a	chr1:211828721-211828740
49	CTCF	chr1:211828460-211828959	HepG2	liver:	n/a	chr1:211828724-211828740 chr1:211828725-211828738 chr1:211828723-211828741 chr1:211828725-211828738 chr1:211828718-211828739
50	RFX5	chr1:211828517-211828900	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211688710..211689427-chr1:211828291..211829134,3	MCF-7	breast:
2	chr1:211642856..211644070-chr1:211828245..211829170,4	K562	blood:
3	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
4	chr1:211687762..211689998-chr1:211828619..211830675,2	K562	blood:
5	chr1:211496521..211497862-chr1:211828604..211829211,3	K562	blood:
6	chr1:211750816..211751334-chr1:211828394..211828945,2	MCF-7	breast:
7	chr1:211824090..211825687-chr1:211827375..211829045,2	MCF-7	breast:
8	chr1:211693675..211694499-chr1:211828424..211829182,3	MCF-7	breast:
9	chr1:211743190..211745097-chr1:211827808..211829565,2	MCF-7	breast:
10	chr1:211750780..211752502-chr1:211827820..211829178,14	K562	blood:
11	chr1:211827406..211830383-chr1:211837337..211839241,2	MCF-7	breast:
12	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
13	chr1:211525918..211526433-chr1:211828256..211828812,2	K562	blood:
14	chr1:211751216..211754175-chr1:211827530..211832882,6	K562	blood:
15	chr1:211432213..211433980-chr1:211827249..211829454,2	K562	blood:

Variant related genes	Relation type
ENSG00000222080	TF binding region
ENSG00000117625	Chromatin interaction
ENSG00000170385	Chromatin interaction

rs_ID	r²[population]
rs11579863	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11581007	0.92[EUR][1000 genomes]
rs11581625	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11587301	0.82[EUR][1000 genomes]
rs11587322	0.82[EUR][1000 genomes]
rs11587366	0.82[EUR][1000 genomes]
rs11588304	0.85[EUR][1000 genomes]
rs11589756	0.85[EUR][1000 genomes]
rs11591188	0.82[EUR][1000 genomes]
rs12753741	0.82[EUR][1000 genomes]
rs17017858	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34490984	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35101434	0.92[EUR][1000 genomes]
rs35478833	0.92[EUR][1000 genomes]
rs35538219	0.85[EUR][1000 genomes]
rs6698045	0.85[EUR][1000 genomes]
rs67342358	0.82[EUR][1000 genomes]
rs67375934	0.82[EUR][1000 genomes]
rs67470142	0.85[EUR][1000 genomes]
rs71640026	0.85[EUR][1000 genomes]

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
3	chr1:211825800-211828800	Enhancers	Placenta	Placenta
4	chr1:211826800-211828800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:211826800-211829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:211827000-211828800	Enhancers	NH-A	brain
7	chr1:211827000-211829000	Enhancers	K562	blood
8	chr1:211827000-211829200	Enhancers	A549	lung
9	chr1:211827400-211829000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:211827600-211828800	Enhancers	HUVEC	blood vessel
11	chr1:211827600-211833800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:211827600-211837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:211827600-211847600	Weak transcription	HSMM	muscle
14	chr1:211827600-211847600	Weak transcription	NHEK	skin
15	chr1:211827800-211828800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:211827800-211835600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:211827800-211836600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:211828000-211829000	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:211828200-211828800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:211828200-211828800	Enhancers	Liver	Liver
21	chr1:211828200-211828800	Enhancers	Fetal Thymus	thymus
22	chr1:211828200-211828800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:211828200-211829000	Enhancers	Stomach Mucosa	stomach
24	chr1:211828200-211840400	Weak transcription	Fetal Lung	lung
25	chr1:211828400-211828800	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:211828400-211828800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr1:211828400-211828800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:211828400-211828800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:211828400-211828800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:211828400-211828800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr1:211828400-211828800	Active TSS	Brain Hippocampus Middle	brain
32	chr1:211828400-211829000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:211828400-211829000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:211828400-211829000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:211828400-211829000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:211828400-211829000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:211828400-211829000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:211828400-211836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:211828600-211828800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:211828600-211828800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:211828600-211828800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:211828600-211828800	Active TSS	Brain Anterior Caudate	brain
43	chr1:211828600-211828800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:211828600-211828800	Enhancers	Fetal Muscle Leg	muscle
45	chr1:211828600-211828800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr1:211828600-211829000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:211828600-211829000	Genic enhancers	Hela-S3	cervix
48	chr1:211828600-211829200	Enhancers	Fetal Intestine Large	intestine
49	chr1:211828600-211829400	Enhancers	HepG2	liver
50	chr1:211828600-211829600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links