Variant report

Variant	rs34061869
Chromosome Location	chr1:151043589-151043590
allele	A/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	CTCF	chr1:151043521-151043881	T-47D	breast:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
2	POLR2A	chr1:151042718-151043938	A549	lung:	n/a	n/a
3	SMC3	chr1:151043007-151043840	K562	blood:	n/a	chr1:151043691-151043705
4	TAL1	chr1:151042695-151043875	K562	blood:	n/a	n/a
5	RAD21	chr1:151043549-151043793	GM12878	blood:	n/a	chr1:151043693-151043706 chr1:151043690-151043709
6	CTCF	chr1:151043580-151043730	GM12868	blood:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
7	MAZ	chr1:151042744-151043885	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr1:151042554-151044152	GM12878	blood:	n/a	n/a
9	PML	chr1:151042465-151044102	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr1:151042675-151043873	A549	lung:	n/a	n/a
11	MXI1	chr1:151042742-151043823	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr1:151043138-151043798	PANC-1	pancreas:	n/a	n/a
13	TAF1	chr1:151042620-151043881	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr1:151042635-151043971	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr1:151042763-151043953	H1-hESC	embryonic stem cell:	n/a	chr1:151042988-151042998 chr1:151043693-151043706 chr1:151043690-151043709
16	YY1	chr1:151042782-151043921	H1-hESC	embryonic stem cell:	n/a	chr1:151043647-151043658 chr1:151043701-151043710 chr1:151043698-151043707 chr1:151043747-151043758
17	BHLHE40	chr1:151042701-151043834	K562	blood:	n/a	n/a
18	CTCF	chr1:151043547-151043813	H1-hESC	embryonic stem cell:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
19	YY1	chr1:151042561-151043855	SK-N-SH	brain:	n/a	chr1:151043647-151043658 chr1:151043701-151043710 chr1:151043698-151043707 chr1:151043747-151043758
20	CTCF	chr1:151042816-151043916	K562	blood:	n/a	chr1:151043691-151043712 chr1:151042992-151043001 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
21	CTCF	chr1:151043573-151043840	MCF-7	breast:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
22	RUNX3	chr1:151042659-151043934	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:151042665-151043886	GM18526	blood:	n/a	n/a
24	EP300	chr1:151042753-151043907	K562	blood:	n/a	chr1:151043698-151043707
25	BCLAF1	chr1:151042641-151043923	GM12878	blood:	n/a	chr1:151043699-151043708 chr1:151043679-151043688 chr1:151043037-151043046
26	RAD21	chr1:151043427-151043840	H1-hESC	embryonic stem cell:	n/a	chr1:151043693-151043706 chr1:151043690-151043709
27	EGR1	chr1:151043339-151043669	GM12878	blood:	n/a	n/a
28	TEAD4	chr1:151042564-151043856	K562	blood:	n/a	n/a
29	MAX	chr1:151042644-151044025	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:151042749-151043660	A549	lung:	n/a	n/a
31	POLR2A	chr1:151042668-151043930	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:151042599-151043865	GM12891	blood:	n/a	n/a
33	CTCF	chr1:151043577-151043858	ECC-1	luminal epithelium:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
34	FOSL2	chr1:151043531-151043831	A549	lung:	n/a	n/a
35	POLR2A	chr1:151041429-151044042	PANC-1	pancreas:	n/a	n/a
36	ZNF143	chr1:151042824-151043857	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr1:151042713-151043975	GM12878	blood:	n/a	n/a
38	IRF1	chr1:151042728-151043866	K562	blood:	n/a	chr1:151043457-151043470 chr1:151043458-151043472
39	ZNF143	chr1:151042838-151043897	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:151042487-151043892	GM19193	blood:	n/a	n/a
41	MAX	chr1:151042747-151043930	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:151042582-151043963	GM12892	blood:	n/a	n/a
43	YY1	chr1:151042783-151043794	SK-N-SH_RA	brain:	n/a	chr1:151043647-151043658 chr1:151043701-151043710 chr1:151043698-151043707 chr1:151043747-151043758
44	HEY1	chr1:151042559-151043853	K562	blood:	n/a	chr1:151043698-151043713
45	ETS1	chr1:151042665-151043931	A549	lung:	n/a	n/a
46	E2F4	chr1:151042774-151043799	K562	blood:	n/a	chr1:151042962-151042973 chr1:151043701-151043710 chr1:151042962-151042973 chr1:151042965-151042973 chr1:151042959-151042976
47	PML	chr1:151042579-151043772	K562	blood:	n/a	n/a
48	FOSL2	chr1:151042654-151043912	A549	lung:	n/a	n/a
49	HEY1	chr1:151042590-151043870	K562	blood:	n/a	chr1:151043698-151043713
50	CTCF	chr1:151043548-151043842	Fibrobl	skin:	n/a	chr1:151043691-151043712 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705

No.	Distal block	Cell Line	Cell type
1	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
2	chr1:151043136..151043657-chr3:121379199..121379950,2	NB4	blood:
3	chr1:151042356..151044958-chr1:151252271..151256325,4	K562	blood:
4	chr1:150977392..150983338-chr1:151040807..151046211,16	MCF-7	breast:
5	chr1:150996741..150997636-chr1:151042895..151043878,5	MCF-7	breast:
6	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
7	chr1:150995604..150998641-chr1:151041475..151044833,5	MCF-7	breast:
8	chr1:150532621..150534705-chr1:151041557..151045135,3	K562	blood:
9	chr1:151000849..151004136-chr1:151043439..151047441,3	K562	blood:
10	chr1:150970397..150973154-chr1:151042388..151043902,2	MCF-7	breast:
11	chr1:151042976..151044739-chr1:151252844..151254871,2	K562	blood:
12	chr1:151043249..151044250-chr1:151127996..151129187,6	MCF-7	breast:
13	chr1:150978624..150980808-chr1:151042705..151044650,2	MCF-7	breast:
14	chr1:150996664..150997645-chr1:151043137..151044189,3	MCF-7	breast:
15	chr1:151031947..151032772-chr1:151043572..151044186,3	MCF-7	breast:
16	chr1:151041779..151043840-chr1:151166772..151169795,3	MCF-7	breast:
17	chr1:150978947..150982308-chr1:151041500..151045951,4	K562	blood:
18	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
19	chr1:151042779..151043609-chr6:26157678..26158524,3	Hela-S3	cervix:
20	chr1:151040998..151044328-chr1:151135769..151140484,5	MCF-7	breast:
21	chr1:151042160..151045059-chr1:151225748..151228568,3	MCF-7	breast:
22	chr1:151041683..151045028-chr1:151160226..151163233,4	MCF-7	breast:
23	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
24	chr1:151040013..151045011-chr1:151111761..151118476,6	MCF-7	breast:
25	chr1:151042151..151045476-chr1:151127754..151130933,3	MCF-7	breast:
26	chr1:151042897..151044564-chr1:151161784..151163721,2	MCF-7	breast:
27	chr1:151042255..151044217-chr1:151136884..151138558,2	MCF-7	breast:

Variant related genes	Relation type
CDC42SE1	TF binding region
ENSG00000143409	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000180353	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163159	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61819215	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694357	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 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	chr1:151042200-151043600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:151042200-151043800	Active TSS	Adipose Nuclei	Adipose
3	chr1:151042200-151044000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:151042200-151044200	Active TSS	Colon Smooth Muscle	Colon
5	chr1:151042200-151044600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:151042400-151044000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:151042400-151044000	Active TSS	Primary T cells from cord blood	blood
8	chr1:151042400-151044000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr1:151042400-151044000	Active TSS	Fetal Intestine Large	intestine
10	chr1:151042400-151044000	Active TSS	Thymus	Thymus
11	chr1:151042400-151044200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:151042400-151044200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:151042400-151044200	Active TSS	Brain Substantia Nigra	brain
14	chr1:151042400-151044200	Active TSS	Pancreas	Pancrea
15	chr1:151042400-151044400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:151042400-151044600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:151042400-151044600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:151042600-151043600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151042600-151043600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:151042600-151043600	ZNF genes & repeats	Fetal Brain Male	brain
21	chr1:151042600-151043800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:151042600-151043800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:151042600-151043800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:151042600-151043800	Active TSS	Stomach Mucosa	stomach
25	chr1:151042600-151043800	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:151042600-151044000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:151042600-151044000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:151042600-151044000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:151042600-151044000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:151042600-151044000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:151042600-151044000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr1:151042600-151044000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:151042600-151044000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:151042600-151044000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:151042600-151044000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:151042600-151044000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:151042600-151044000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:151042600-151044000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:151042600-151044000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:151042600-151044000	Active TSS	Esophagus	oesophagus
41	chr1:151042600-151044000	Active TSS	Fetal Stomach	stomach
42	chr1:151042600-151044000	Active TSS	Ovary	ovary
43	chr1:151042600-151044000	Active TSS	Psoas Muscle	Psoas
44	chr1:151042600-151044000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:151042600-151044000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr1:151042600-151044000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:151042600-151044000	Active TSS	HSMMtube	muscle
48	chr1:151042600-151044200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:151042600-151044200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:151042600-151044200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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