Variant report

Variant	rs530346387
Chromosome Location	chr1:173446619-173446620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

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	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr1:173446399-173446866	K562	blood:	n/a	n/a
10	CTCF	chr1:173446500-173446650	WERI-Rb-1	eye:	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	BACH1	chr1:173446549-173446658	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F4	chr1:173445832-173447209	K562	blood:	n/a	chr1:173446872-173446881
16	NFYB	chr1:173446025-173446746	K562	blood:	n/a	n/a
17	MAZ	chr1:173445725-173447203	GM12878	blood:	n/a	n/a
18	REST	chr1:173446399-173447009	A549	lung:	n/a	chr1:173446675-173446688
19	MAX	chr1:173446402-173447211	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr1:173446547-173446730	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:173445756-173447189	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr1:173446408-173446978	HUVEC	blood vessel:	n/a	n/a
23	YY1	chr1:173446376-173446950	GM12878	blood:	n/a	chr1:173446912-173446923 chr1:173446729-173446743
24	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
25	RFX5	chr1:173445891-173447097	HepG2	liver:	n/a	n/a
26	MAX	chr1:173446376-173447161	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:173445641-173446914	PFSK-1	brain:	n/a	n/a
28	NRF1	chr1:173446563-173446957	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
30	MYC	chr1:173446510-173447131	MCF-7	breast:	n/a	n/a
31	YY1	chr1:173445875-173447448	ECC-1	luminal epithelium:	n/a	chr1:173447030-173447041 chr1:173446912-173446923 chr1:173447024-173447038 chr1:173446729-173446743
32	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
33	HA-E2F1	chr1:173445814-173447313	Hela-S3	cervix:	n/a	chr1:173446872-173446881
34	POLR2A	chr1:173446368-173447586	HCT-116	colon:	n/a	n/a
35	CTCF	chr1:173446540-173446690	RPTEC	kidney:	n/a	n/a
36	POLR2A	chr1:173446383-173447283	A549	lung:	n/a	n/a
37	REST	chr1:173446372-173446955	HL-60	blood:	n/a	chr1:173446675-173446688
38	MAX	chr1:173446395-173447798	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
40	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
41	HEY1	chr1:173446397-173447729	K562	blood:	n/a	chr1:173447030-173447045
42	TAF1	chr1:173446405-173446730	Hela-S3	cervix:	n/a	n/a
43	RUNX3	chr1:173446375-173446922	GM12878	blood:	n/a	n/a
44	ZMIZ1	chr1:173445813-173446776	K562	blood:	n/a	n/a
45	POLR2A	chr1:173445799-173447911	MCF10A-Er-Src	breast:	n/a	n/a
46	SP4	chr1:173446309-173446674	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr1:173445805-173447733	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr1:173446389-173447002	SK-N-SH	brain:	n/a	n/a
49	SMC3	chr1:173446520-173446627	GM12878	blood:	n/a	n/a
50	POU2F2	chr1:173446399-173446619	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173446508..173448738-chr1:173682879..173684641,2	K562	blood:
2	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
3	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
4	chr1:173446351..173447261-chr15:76628469..76629107,2	Hela-S3	cervix:
5	chr1:173446562..173447403-chr7:75989075..75989632,2	Hela-S3	cervix:
6	chr1:173445658..173447676-chr1:173831376..173834939,3	K562	blood:
7	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
8	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:
9	chr1:173445824..173447952-chr1:174128991..174131620,2	K562	blood:
10	chr1:173446002..173446952-chr6:44214634..44215237,2	Hela-S3	cervix:
11	chr1:173446451..173447265-chr6:134494988..134495679,2	Hela-S3	cervix:
12	chr1:173446262..173446977-chr17:73150299..73150837,2	Hela-S3	cervix:
13	chr1:173446233..173448381-chr1:173683311..173685708,2	MCF-7	breast:
14	chr1:173446466..173446984-chr9:130661338..130662021,2	Hela-S3	cervix:
15	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
16	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
17	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
18	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
19	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
20	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
21	chr1:173446175..173446711-chr5:40834996..40835929,2	Hela-S3	cervix:
22	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000118515	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000159556	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000200674	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000160408	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	chr1:173445400-173447200	Active TSS	Brain Anterior Caudate	brain
21	chr1:173445400-173447400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:173445400-173447400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:173445400-173447400	Active TSS	Colon Smooth Muscle	Colon
24	chr1:173445400-173447400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:173445400-173447400	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:173445400-173447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:173445400-173447600	Active TSS	Fetal Kidney	kidney
28	chr1:173445400-173447600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
34	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
37	chr1:173445600-173446800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:173445600-173446800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:173445600-173447000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:173445600-173447000	Active TSS	Brain Germinal Matrix	brain
41	chr1:173445600-173447000	Active TSS	Fetal Brain Male	brain
42	chr1:173445600-173447000	Active TSS	Fetal Muscle Leg	muscle
43	chr1:173445600-173447000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:173445600-173447200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:173445600-173447200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:173445600-173447200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:173445600-173447200	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:173445600-173447200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:173445600-173447200	Active TSS	Brain Hippocampus Middle	brain
50	chr1:173445600-173447200	Active TSS	Brain Substantia Nigra	brain

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