Variant report

Variant	rs34760987
Chromosome Location	chr1:173446446-173446447
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173445810-173446727	GM12878	blood:	n/a	n/a
2	MTA3	chr1:173446346-173447346	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:173446378-173446845	HepG2	liver:	n/a	n/a
4	REST	chr1:173445635-173447170	H1-neurons	neurons:	n/a	chr1:173446675-173446688
5	TRIM28	chr1:173445323-173446776	K562	blood:	n/a	n/a
6	RCOR1	chr1:173445749-173446680	GM12878	blood:	n/a	n/a
7	RAD21	chr1:173446372-173446647	SK-N-SH_RA	brain:	n/a	n/a
8	TAF7	chr1:173446411-173446587	K562	blood:	n/a	n/a
9	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
10	ELF1	chr1:173446399-173446866	K562	blood:	n/a	n/a
11	TEAD4	chr1:173446401-173447766	K562	blood:	n/a	n/a
12	MAX	chr1:173445619-173447723	HCT-116	colon:	n/a	n/a
13	GTF2F1	chr1:173446384-173446645	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F4	chr1:173445832-173447209	K562	blood:	n/a	chr1:173446872-173446881
15	NFYB	chr1:173446025-173446746	K562	blood:	n/a	n/a
16	MAZ	chr1:173445725-173447203	GM12878	blood:	n/a	n/a
17	REST	chr1:173446399-173447009	A549	lung:	n/a	chr1:173446675-173446688
18	MAX	chr1:173446402-173447211	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:173445756-173447189	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr1:173446408-173446978	HUVEC	blood vessel:	n/a	n/a
21	YY1	chr1:173446376-173446950	GM12878	blood:	n/a	chr1:173446912-173446923 chr1:173446729-173446743
22	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
23	RFX5	chr1:173445891-173447097	HepG2	liver:	n/a	n/a
24	MAX	chr1:173446376-173447161	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:173445641-173446914	PFSK-1	brain:	n/a	n/a
26	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
27	YY1	chr1:173445875-173447448	ECC-1	luminal epithelium:	n/a	chr1:173447030-173447041 chr1:173446912-173446923 chr1:173447024-173447038 chr1:173446729-173446743
28	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
29	ATF1	chr1:173446023-173446551	K562	blood:	n/a	n/a
30	HA-E2F1	chr1:173445814-173447313	Hela-S3	cervix:	n/a	chr1:173446872-173446881
31	POLR2A	chr1:173446368-173447586	HCT-116	colon:	n/a	n/a
32	POLR2A	chr1:173446383-173447283	A549	lung:	n/a	n/a
33	REST	chr1:173446372-173446955	HL-60	blood:	n/a	chr1:173446675-173446688
34	MAX	chr1:173446395-173447798	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
36	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
37	HEY1	chr1:173446397-173447729	K562	blood:	n/a	chr1:173447030-173447045
38	TAF1	chr1:173446405-173446730	Hela-S3	cervix:	n/a	n/a
39	RUNX3	chr1:173446375-173446922	GM12878	blood:	n/a	n/a
40	ZMIZ1	chr1:173445813-173446776	K562	blood:	n/a	n/a
41	POLR2A	chr1:173445799-173447911	MCF10A-Er-Src	breast:	n/a	n/a
42	SP4	chr1:173446309-173446674	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr1:173445805-173447733	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr1:173446389-173447002	SK-N-SH	brain:	n/a	n/a
45	POU2F2	chr1:173446399-173446619	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:173446392-173447043	HUVEC	blood vessel:	n/a	n/a
47	CEBPD	chr1:173446384-173446649	HepG2	liver:	n/a	n/a
48	JUND	chr1:173445816-173446816	K562	blood:	n/a	n/a
49	POLR2A	chr1:173446360-173447661	K562	blood:	n/a	n/a
50	RCOR1	chr1:173445703-173447685	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:173446429-173446479	AG04449	skin:	fetal
2	chr1:173446429-173446479	MCF10A-Er-Src	breast:	n/a
3	chr1:173446429-173446479	SK-N-SH	brain:	n/a
4	chr1:173446429-173446479	U87	brain:	n/a
5	chr1:173446429-173446479	HCT-116	colon:	n/a
6	chr1:173446429-173446479	SK-N-MC	brain:	n/a
7	chr1:173446429-173446479	HUVEC	blood vessel:	n/a
8	chr1:173446429-173446479	BE2_C	brain:	n/a
9	chr1:173446429-173446479	IMR90	lung:	fetal
10	chr1:173446429-173446479	HEEpiC	esophagus:	n/a
11	chr1:173446429-173446479	HMEC	breast:	n/a
12	chr1:173446429-173446479	NHBE	bronchial:	n/a
13	chr1:173446429-173446479	HRCEpiC	kidney:	n/a
14	chr1:173446429-173446479	H1-hESC	embryonic stem cell:	embryo
15	chr1:173446429-173446479	AG09319	gingival:	n/a
16	chr1:173446429-173446479	GM06990	blood:	n/a
17	chr1:173446429-173446479	NB4	blood:	n/a
18	chr1:173446429-173446479	AG10803	skin:	n/a
19	chr1:173446429-173446479	PANC-1	pancreas:	n/a
20	chr1:173446429-173446479	HRE	kidney:	n/a
21	chr1:173446429-173446479	GM12892	blood:	n/a
22	chr1:173446429-173446479	Hela-S3	cervix:	n/a
23	chr1:173446429-173446479	Hepatocyte	liver:	n/a
24	chr1:173446429-173446479	HepG2	liver:	n/a
25	chr1:173446429-173446479	CMK	blood:	n/a
26	chr1:173446429-173446479	SAEC	small airway:	n/a
27	chr1:173446429-173446479	MCF-7	breast:	n/a
28	chr1:173446429-173446479	NH-A	brain:	n/a
29	chr1:173446429-173446479	Jurkat	blood:	n/a
30	chr1:173446429-173446479	SK-N-SH_RA	brain:	n/a
31	chr1:173446429-173446479	HRPEpiC	eye:	n/a
32	chr1:173446429-173446479	ovcar-3	ovarian:	n/a
33	chr1:173446429-173446479	HCM	heart:	n/a
34	chr1:173446429-173446479	Caco-2	colon:	n/a
35	chr1:173446429-173446479	PFSK-1	brain:	n/a
36	chr1:173446429-173446479	HCPEpiC	choroid plexus:	n/a
37	chr1:173446429-173446479	HNPCEpiC	eye:	n/a
38	chr1:173446429-173446479	PrEC	prostate:	n/a
39	chr1:173446429-173446479	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:173446429-173446479	GM12878	blood:	n/a
41	chr1:173446429-173446479	T-47D	breast:	n/a
42	chr1:173446429-173446479	ProgFib	skin:	n/a
43	chr1:173446429-173446479	ECC-1	luminal epithelium:	n/a
44	chr1:173446429-173446479	AG09309	skin:	n/a
45	chr1:173446429-173446479	A549	lung:	n/a
46	chr1:173446429-173446479	NHDF-neo	bronchial:	n/a
47	chr1:173446429-173446479	RPTEC	kidney:	n/a
48	chr1:173446429-173446479	HAEpiC	amniotic membrane:	n/a
49	chr1:173446429-173446479	GM19239	blood:	n/a
50	chr1:173446429-173446479	HEK293	kidney:	embryo

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
2	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
3	chr1:173446351..173447261-chr15:76628469..76629107,2	Hela-S3	cervix:
4	chr1:173445658..173447676-chr1:173831376..173834939,3	K562	blood:
5	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
6	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:
7	chr1:173445824..173447952-chr1:174128991..174131620,2	K562	blood:
8	chr1:173446002..173446952-chr6:44214634..44215237,2	Hela-S3	cervix:
9	chr1:173446262..173446977-chr17:73150299..73150837,2	Hela-S3	cervix:
10	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
11	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
12	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
13	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
14	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
15	chr1:173445598..173446579-chr1:173683742..173684289,2	Hela-S3	cervix:
16	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
17	chr1:173446175..173446711-chr5:40834996..40835929,2	Hela-S3	cervix:
18	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX6	TF binding region
PRDX6	CpG island
ENSG00000096384	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000200674	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000159556	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3356084	chr1:173445354-173448202	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:173443600-173447400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:173443600-173447800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:173443800-173447600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:173444200-173447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:173444200-173447400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
8	chr1:173444600-173447400	Active TSS	Brain Angular Gyrus	brain
9	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:173445000-173447400	Active TSS	Gastric	stomach
11	chr1:173445000-173448200	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:173445200-173447000	Active TSS	Fetal Brain Female	brain
13	chr1:173445200-173447400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:173445200-173447600	Active TSS	Aorta	Aorta
15	chr1:173445200-173447600	Active TSS	Small Intestine	intestine
16	chr1:173445200-173448000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:173445200-173448000	Active TSS	Lung	lung
18	chr1:173445200-173448200	Active TSS	Ovary	ovary
19	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:173445400-173446600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:173445400-173447200	Active TSS	Brain Anterior Caudate	brain
22	chr1:173445400-173447400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:173445400-173447400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:173445400-173447400	Active TSS	Colon Smooth Muscle	Colon
25	chr1:173445400-173447400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:173445400-173447400	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:173445400-173447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:173445400-173447600	Active TSS	Fetal Kidney	kidney
29	chr1:173445400-173447600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
35	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
38	chr1:173445600-173446600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:173445600-173446800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:173445600-173446800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:173445600-173447000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:173445600-173447000	Active TSS	Brain Germinal Matrix	brain
43	chr1:173445600-173447000	Active TSS	Fetal Brain Male	brain
44	chr1:173445600-173447000	Active TSS	Fetal Muscle Leg	muscle
45	chr1:173445600-173447000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:173445600-173447200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:173445600-173447200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr1:173445600-173447200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:173445600-173447200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:173445600-173447200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links