Variant report

Variant	rs35133735
Chromosome Location	chr1:173446115-173446116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr1:173445618-173446355	K562	blood:	n/a	n/a
2	POLR2A	chr1:173445810-173446727	GM12878	blood:	n/a	n/a
3	REST	chr1:173445635-173447170	H1-neurons	neurons:	n/a	chr1:173446675-173446688
4	TRIM28	chr1:173445323-173446776	K562	blood:	n/a	n/a
5	RCOR1	chr1:173445749-173446680	GM12878	blood:	n/a	n/a
6	CHD1	chr1:173445589-173446258	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:173445888-173446299	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr1:173445789-173446297	PANC-1	pancreas:	n/a	n/a
10	ETS1	chr1:173445919-173446296	K562	blood:	n/a	n/a
11	EP300	chr1:173446087-173446242	GM12878	blood:	n/a	n/a
12	MAX	chr1:173445619-173447723	HCT-116	colon:	n/a	n/a
13	ELF1	chr1:173445977-173446306	K562	blood:	n/a	n/a
14	E2F4	chr1:173445832-173447209	K562	blood:	n/a	chr1:173446872-173446881
15	CTCF	chr1:173445980-173446130	GM06990	blood:	n/a	n/a
16	NFYB	chr1:173446025-173446746	K562	blood:	n/a	n/a
17	MAZ	chr1:173445725-173447203	GM12878	blood:	n/a	n/a
18	FOS	chr1:173446027-173446388	K562	blood:	n/a	n/a
19	TAF1	chr1:173445748-173446253	A549	lung:	n/a	n/a
20	MAX	chr1:173445726-173446398	MCF-7	breast:	n/a	n/a
21	USF1	chr1:173445847-173446308	A549	lung:	n/a	chr1:173446173-173446184
22	POLR2A	chr1:173445763-173446302	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:173445756-173447189	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr1:173445872-173446315	A549	lung:	n/a	n/a
25	NRF1	chr1:173445870-173446273	K562	blood:	n/a	chr1:173446047-173446058
26	POLR2A	chr1:173445829-173448071	MCF10A-Er-Src	breast:	n/a	n/a
27	RFX5	chr1:173445891-173447097	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:173445641-173446914	PFSK-1	brain:	n/a	n/a
29	SIN3AK20	chr1:173445582-173447941	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:173445675-173446315	HUVEC	blood vessel:	n/a	n/a
31	REST	chr1:173445922-173446221	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:173445740-173446291	U87	brain:	n/a	n/a
33	YY1	chr1:173445875-173447448	ECC-1	luminal epithelium:	n/a	chr1:173447030-173447041 chr1:173446912-173446923 chr1:173447024-173447038 chr1:173446729-173446743
34	POLR2A	chr1:173445747-173447797	HepG2	liver:	n/a	n/a
35	ZNF384	chr1:173445822-173446215	K562	blood:	n/a	n/a
36	CTCF	chr1:173445980-173446130	GM12872	blood:	n/a	n/a
37	SIN3AK20	chr1:173445985-173446327	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF1	chr1:173446023-173446551	K562	blood:	n/a	n/a
39	HA-E2F1	chr1:173445814-173447313	Hela-S3	cervix:	n/a	chr1:173446872-173446881
40	YY1	chr1:173445937-173446237	SK-N-SH_RA	brain:	n/a	n/a
41	FOS	chr1:173445737-173446226	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr1:173445692-173446319	GM12878	blood:	n/a	n/a
43	USF1	chr1:173445865-173446334	SK-N-SH_RA	brain:	n/a	chr1:173446173-173446184
44	MAX	chr1:173445858-173447737	A549	lung:	n/a	n/a
45	USF1	chr1:173445968-173446314	HepG2	liver:	n/a	chr1:173446173-173446184
46	TCF12	chr1:173445731-173446334	A549	lung:	n/a	n/a
47	MYC	chr1:173446016-173447763	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr1:173445863-173446283	GM12878	blood:	n/a	n/a
49	ZMIZ1	chr1:173445813-173446776	K562	blood:	n/a	n/a
50	CHD2	chr1:173445887-173446260	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173445697..173446417-chr5:40797910..40798503,2	Hela-S3	cervix:
2	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
3	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
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	chr1:173445797..173446318-chr2:232469148..232469795,2	Hela-S3	cervix:
10	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
11	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
12	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
13	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
14	chr1:173445598..173446579-chr1:173683742..173684289,2	Hela-S3	cervix:
15	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
16	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9A11-2	chr1:173445771-173446294	ENSG00000247291

No data

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000270084	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000200674	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000170832	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10082296	1.00[AMR][1000 genomes]
rs10128064	1.00[AMR][1000 genomes]
rs10158274	1.00[AMR][1000 genomes]
rs10159349	1.00[AMR][1000 genomes]
rs12080065	1.00[EUR][1000 genomes]
rs12239406	1.00[AMR][1000 genomes]
rs13313018	1.00[AMR][1000 genomes]
rs13374735	1.00[AMR][1000 genomes]
rs13375569	1.00[AMR][1000 genomes]
rs13376081	1.00[AMR][1000 genomes]
rs13376392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1590497	1.00[EUR][1000 genomes]
rs34538393	1.00[EUR][1000 genomes]
rs34683148	1.00[AMR][1000 genomes]
rs35052032	1.00[AMR][1000 genomes]
rs35441546	0.95[AFR][1000 genomes]
rs56190800	1.00[EUR][1000 genomes]
rs57058504	1.00[EUR][1000 genomes]
rs61533092	1.00[EUR][1000 genomes]
rs6425252	1.00[AMR][1000 genomes]
rs6656810	1.00[AMR][1000 genomes]
rs6665165	1.00[EUR][1000 genomes]
rs6665497	1.00[AMR][1000 genomes]
rs6680684	1.00[EUR][1000 genomes]
rs6695916	1.00[AMR][1000 genomes]
rs6703355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518933	1.00[AMR][1000 genomes]
rs7532991	1.00[AMR][1000 genomes]
rs7540898	1.00[AMR][1000 genomes]

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	chr1:173444400-173446200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
9	chr1:173444600-173447400	Active TSS	Brain Angular Gyrus	brain
10	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:173445000-173447400	Active TSS	Gastric	stomach
12	chr1:173445000-173448200	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:173445200-173446200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:173445200-173446200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:173445200-173446400	Bivalent/Poised TSS	HepG2	liver
16	chr1:173445200-173447000	Active TSS	Fetal Brain Female	brain
17	chr1:173445200-173447400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:173445200-173447600	Active TSS	Aorta	Aorta
19	chr1:173445200-173447600	Active TSS	Small Intestine	intestine
20	chr1:173445200-173448000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:173445200-173448000	Active TSS	Lung	lung
22	chr1:173445200-173448200	Active TSS	Ovary	ovary
23	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:173445400-173446600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:173445400-173447200	Active TSS	Brain Anterior Caudate	brain
26	chr1:173445400-173447400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:173445400-173447400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:173445400-173447400	Active TSS	Colon Smooth Muscle	Colon
29	chr1:173445400-173447400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:173445400-173447400	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:173445400-173447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:173445400-173447600	Active TSS	Fetal Kidney	kidney
33	chr1:173445400-173447600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr1:173445400-173447800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:173445400-173447800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:173445400-173447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:173445400-173447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:173445400-173447800	Active TSS	Esophagus	oesophagus
39	chr1:173445400-173448000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:173445400-173448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:173445400-173448000	Active TSS	Left Ventricle	heart
42	chr1:173445600-173446600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:173445600-173446800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:173445600-173446800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:173445600-173447000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:173445600-173447000	Active TSS	Brain Germinal Matrix	brain
47	chr1:173445600-173447000	Active TSS	Fetal Brain Male	brain
48	chr1:173445600-173447000	Active TSS	Fetal Muscle Leg	muscle
49	chr1:173445600-173447000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:173445600-173447200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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