Variant report

Variant	rs605472
Chromosome Location	chr1:155881320-155881321
allele	C/G
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	SP1	chr1:155881013-155881429	GM12878	blood:	n/a	chr1:155881234-155881246 chr1:155881201-155881213 chr1:155881203-155881212 chr1:155881201-155881213 chr1:155881234-155881246 chr1:155881236-155881245 chr1:155881201-155881212 chr1:155881235-155881249 chr1:155881202-155881211 chr1:155881234-155881245 chr1:155881202-155881212 chr1:155881202-155881212 chr1:155881235-155881245 chr1:155881193-155881207 chr1:155881203-155881212 chr1:155881235-155881244 chr1:155881245-155881256
2	TBP	chr1:155881100-155881539	Hela-S3	cervix:	n/a	n/a
3	TBL1XR1	chr1:155881032-155881723	GM12878	blood:	n/a	n/a
4	MYBL2	chr1:155880904-155881594	HepG2	liver:	n/a	n/a
5	YY1	chr1:155880961-155881402	H1-hESC	embryonic stem cell:	n/a	chr1:155881156-155881178 chr1:155880985-155880996 chr1:155881166-155881178
6	TAF1	chr1:155880979-155881338	GM12878	blood:	n/a	n/a
7	MXI1	chr1:155881101-155881719	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:155880500-155882029	Hela-S3	cervix:	n/a	n/a
9	TAF1	chr1:155880979-155881363	SK-N-SH	brain:	n/a	n/a
10	YY1	chr1:155880909-155881417	SK-N-SH_RA	brain:	n/a	chr1:155881156-155881178 chr1:155880985-155880996 chr1:155881166-155881178
11	CTCF	chr1:155880982-155881393	K562	blood:	n/a	n/a
12	CTCF	chr1:155881240-155881390	HMF	breast:	n/a	n/a
13	PML	chr1:155881036-155881466	GM12878	blood:	n/a	n/a
14	CREB1	chr1:155881033-155881376	ECC-1	luminal epithelium:	n/a	n/a
15	SIN3AK20	chr1:155880862-155881589	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:155880891-155881322	Gliobla	brain:	n/a	n/a
17	SMC3	chr1:155880464-155881484	Hela-S3	cervix:	n/a	n/a
18	YY1	chr1:155880967-155881339	GM12891	blood:	n/a	chr1:155881156-155881178 chr1:155880985-155880996 chr1:155881166-155881178
19	BCL3	chr1:155880991-155881553	K562	blood:	n/a	chr1:155881004-155881013
20	POLR2A	chr1:155880959-155882043	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:155880908-155882410	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:155880856-155881395	GM12878	blood:	n/a	n/a
23	PAX5	chr1:155880991-155881323	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:155880873-155881561	HL-60	blood:	n/a	n/a
25	ZMIZ1	chr1:155880605-155881443	K562	blood:	n/a	n/a
26	REST	chr1:155880214-155881594	H1-neurons	neurons:	n/a	n/a
27	YY1	chr1:155880988-155881417	GM12878	blood:	n/a	chr1:155881156-155881178 chr1:155881166-155881178
28	POLR2A	chr1:155881092-155881783	PBDE	blood:	n/a	n/a
29	POLR2A	chr1:155880848-155881388	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:155880804-155882518	GM12892	blood:	n/a	n/a
31	CTCF	chr1:155881180-155881330	HPAF	blood vessel:	n/a	n/a
32	YY1	chr1:155880980-155881432	GM12878	blood:	n/a	chr1:155881156-155881178 chr1:155880985-155880996 chr1:155881166-155881178
33	ATF1	chr1:155880621-155881404	K562	blood:	n/a	n/a
34	CTCF	chr1:155881220-155881370	GM12878	blood:	n/a	n/a
35	YY1	chr1:155880803-155881443	HepG2	liver:	n/a	chr1:155881156-155881178 chr1:155880985-155880996 chr1:155881166-155881178
36	POLR2A	chr1:155880957-155881378	HepG2	liver:	n/a	n/a
37	MAX	chr1:155880605-155881448	Hela-S3	cervix:	n/a	chr1:155881235-155881245 chr1:155880790-155880799
38	POLR2A	chr1:155880965-155881367	A549	lung:	n/a	n/a
39	BCL3	chr1:155880462-155882083	A549	lung:	n/a	chr1:155881004-155881013
40	ETS1	chr1:155880956-155881359	K562	blood:	n/a	chr1:155881005-155881016
41	NFATC1	chr1:155880851-155882008	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:155880911-155881503	GM12892	blood:	n/a	n/a
43	STAT1	chr1:155881024-155881383	GM12878	blood:	n/a	chr1:155881243-155881255
44	EBF1	chr1:155881175-155881738	GM12878	blood:	n/a	n/a
45	FOXA1	chr1:155881185-155881589	HepG2	liver:	n/a	n/a
46	POU2F2	chr1:155880951-155881452	GM12891	blood:	n/a	chr1:155880990-155881002 chr1:155880981-155880993
47	CTCF	chr1:155881260-155881410	HMEC	breast:	n/a	n/a
48	POLR2A	chr1:155880402-155882368	PANC-1	pancreas:	n/a	n/a
49	MAX	chr1:155880957-155881446	ECC-1	luminal epithelium:	n/a	chr1:155881235-155881245
50	POLR2A	chr1:155880656-155882047	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155881290-155881340	Jurkat	blood:	n/a
2	chr1:155881290-155881340	HMEC	breast:	n/a
3	chr1:155881290-155881340	BE2_C	brain:	n/a
4	chr1:155881290-155881340	NT2-D1	testis:	n/a
5	chr1:155881290-155881340	K562	blood:	n/a
6	chr1:155881290-155881340	AG04449	skin:	fetal
7	chr1:155881290-155881340	GM12892	blood:	n/a
8	chr1:155881290-155881340	SK-N-SH	brain:	n/a
9	chr1:155881290-155881340	AG09309	skin:	n/a
10	chr1:155881290-155881340	ProgFib	skin:	n/a
11	chr1:155881290-155881340	HRCEpiC	kidney:	n/a
12	chr1:155881290-155881340	HUVEC	blood vessel:	n/a
13	chr1:155881290-155881340	MCF10A-Er-Src	breast:	n/a
14	chr1:155881290-155881340	Hela-S3	cervix:	n/a
15	chr1:155881290-155881340	HepG2	liver:	n/a
16	chr1:155881290-155881340	MCF-7	breast:	n/a
17	chr1:155881290-155881340	PrEC	prostate:	n/a
18	chr1:155881290-155881340	HAEpiC	amniotic membrane:	n/a
19	chr1:155881290-155881340	HL-60	blood:	n/a
20	chr1:155881290-155881340	RPTEC	kidney:	n/a
21	chr1:155881290-155881340	IMR90	lung:	fetal
22	chr1:155881290-155881340	A549	lung:	n/a
23	chr1:155881290-155881340	HRE	kidney:	n/a
24	chr1:155881290-155881340	HEK293	kidney:	embryo
25	chr1:155881290-155881340	T-47D	breast:	n/a
26	chr1:155881290-155881340	AoSMC	blood vessel:	n/a
27	chr1:155881290-155881340	H1-hESC	embryonic stem cell:	embryo
28	chr1:155881290-155881340	GM06990	blood:	n/a
29	chr1:155881290-155881340	AG10803	skin:	n/a
30	chr1:155881290-155881340	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:155881290-155881340	NB4	blood:	n/a
32	chr1:155881290-155881340	NHDF-neo	bronchial:	n/a
33	chr1:155881290-155881340	PANC-1	pancreas:	n/a
34	chr1:155881290-155881340	Caco-2	colon:	n/a
35	chr1:155881290-155881340	HCPEpiC	choroid plexus:	n/a
36	chr1:155881290-155881340	GM12878	blood:	n/a
37	chr1:155881290-155881340	HCF	heart:	n/a
38	chr1:155881290-155881340	SAEC	small airway:	n/a
39	chr1:155881290-155881340	AG09319	gingival:	n/a
40	chr1:155881290-155881340	CMK	blood:	n/a
41	chr1:155881290-155881340	NHBE	bronchial:	n/a
42	chr1:155881290-155881340	HCT-116	colon:	n/a
43	chr1:155881290-155881340	ECC-1	luminal epithelium:	n/a
44	chr1:155881290-155881340	GM12891	blood:	n/a
45	chr1:155881290-155881340	HCM	heart:	n/a
46	chr1:155881290-155881340	SKMC	muscle:	n/a
47	chr1:155881290-155881340	Hepatocyte	liver:	n/a
48	chr1:155881290-155881340	BJ	skin:	n/a
49	chr1:155881290-155881340	HIPEpiC	eye:	n/a
50	chr1:155881290-155881340	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
2	chr1:155879962..155882698-chr1:155885713..155888748,6	MCF-7	breast:
3	chr1:155881025..155882666-chr1:156029216..156031058,2	MCF-7	breast:
4	chr1:155881067..155881585-chr20:30192878..30193567,2	Hela-S3	cervix:
5	chr1:155879661..155882760-chr1:155946571..155949454,3	K562	blood:
6	chr1:155879409..155881796-chr1:155901375..155905401,4	MCF-7	breast:
7	chr1:155878384..155883302-chr1:155900472..155905868,7	K562	blood:
8	chr1:155880593..155881366-chr12:7053427..7053939,2	Hela-S3	cervix:
9	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
10	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
11	chr1:155880615..155881579-chr7:21984391..21985346,2	Hela-S3	cervix:
12	chr1:155881056..155883615-chr1:155891252..155893038,3	MCF-7	breast:
13	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
14	chr1:155879114..155881367-chr1:155902425..155905245,4	MCF-7	breast:

Variant related genes	Relation type
RIT1	TF binding region
RIT1	CpG island
ENSG00000272173	Chromatin interaction
ENSG00000164649	Chromatin interaction
ENSG00000273002	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000132698	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000132718	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2152050	0.90[AFR][1000 genomes]
rs2152051	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs550092	0.84[AFR][1000 genomes]
rs6427292	0.82[AFR][1000 genomes]
rs6687169	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822516	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155879400-155881600	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:155879600-155881400	Active TSS	Esophagus	oesophagus
3	chr1:155879800-155881400	Active TSS	Fetal Brain Male	brain
4	chr1:155879800-155881600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:155880000-155881400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:155880000-155881400	Active TSS	Brain Germinal Matrix	brain
7	chr1:155880000-155881400	Active TSS	Fetal Intestine Large	intestine
8	chr1:155880000-155881400	Active TSS	HSMMtube	muscle
9	chr1:155880000-155881600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:155880000-155881600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155880000-155881600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr1:155880000-155881600	Active TSS	Aorta	Aorta
13	chr1:155880000-155881600	Active TSS	Right Atrium	heart
14	chr1:155880200-155881400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:155880200-155881400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:155880200-155881400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:155880200-155881400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:155880200-155881400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:155880200-155881400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:155880200-155881400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:155880200-155881400	Active TSS	Colonic Mucosa	Colon
22	chr1:155880200-155881400	Active TSS	Fetal Stomach	stomach
23	chr1:155880200-155881600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:155880200-155881600	Active TSS	Left Ventricle	heart
25	chr1:155880200-155881600	Active TSS	Ovary	ovary
26	chr1:155880200-155881600	Active TSS	Right Ventricle	heart
27	chr1:155880200-155881800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:155880400-155881400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:155880400-155881400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:155880400-155881400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:155880400-155881400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:155880400-155881400	Active TSS	Brain Anterior Caudate	brain
33	chr1:155880400-155881400	Active TSS	Brain Hippocampus Middle	brain
34	chr1:155880400-155881400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:155880400-155881400	Active TSS	Fetal Kidney	kidney
36	chr1:155880400-155881400	Active TSS	NHDF-Ad	bronchial
37	chr1:155880400-155881600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:155880400-155881600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:155880400-155881600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:155880400-155881600	Active TSS	Brain Substantia Nigra	brain
41	chr1:155880400-155881600	Active TSS	Colon Smooth Muscle	Colon
42	chr1:155880400-155881600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:155880400-155881600	Active TSS	Psoas Muscle	Psoas
44	chr1:155880400-155881800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:155880600-155881400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:155880600-155881400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:155880600-155881400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:155880600-155881400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:155880600-155881400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:155880600-155881400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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