Variant report

Variant	rs34731458
Chromosome Location	chr1:113247898-113247899
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	GTF2B	chr1:113247605-113248089	K562	blood:	n/a	n/a
2	ZBTB7A	chr1:113247330-113248068	K562	blood:	n/a	n/a
3	EP300	chr1:113247503-113248020	SK-N-SH_RA	brain:	n/a	chr1:113247691-113247700 chr1:113247687-113247701
4	JUND	chr1:113247774-113248301	HepG2	liver:	n/a	chr1:113248123-113248131 chr1:113248122-113248133 chr1:113248121-113248132
5	RUNX3	chr1:113247291-113248395	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:113247523-113248047	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:113247525-113247953	H1-hESC	embryonic stem cell:	n/a	chr1:113247619-113247629
8	MAFK	chr1:113247635-113248258	Hela-S3	cervix:	n/a	chr1:113248041-113248056 chr1:113247686-113247701
9	ZNF143	chr1:113247528-113248138	K562	blood:	n/a	n/a
10	POLR2A	chr1:113247074-113248127	GM12878	blood:	n/a	n/a
11	IKZF1	chr1:113247412-113248411	GM12878	blood:	n/a	n/a
12	RCOR1	chr1:113247326-113248153	K562	blood:	n/a	n/a
13	TCF12	chr1:113247298-113248582	A549	lung:	n/a	n/a
14	ZNF143	chr1:113247582-113248012	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:113247570-113248200	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr1:113246393-113248209	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:113247221-113248313	K562	blood:	n/a	n/a
18	POLR2A	chr1:113247419-113248153	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr1:113246913-113248302	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:113240102-113248907	U87	brain:	n/a	n/a
21	CUX1	chr1:113247826-113248133	K562	blood:	n/a	n/a
22	RCOR1	chr1:113247440-113248252	GM12878	blood:	n/a	n/a
23	SP1	chr1:113247374-113248322	A549	lung:	n/a	chr1:113247800-113247811 chr1:113247629-113247638 chr1:113247797-113247811 chr1:113247800-113247812 chr1:113247801-113247810 chr1:113247628-113247638 chr1:113247800-113247812 chr1:113247628-113247642
24	IRF1	chr1:113247415-113248398	K562	blood:	n/a	chr1:113247688-113247697
25	TAF1	chr1:113247761-113248115	GM12891	blood:	n/a	n/a
26	ATF2	chr1:113247446-113248342	GM12878	blood:	n/a	n/a
27	TCF7L2	chr1:113247812-113248310	MCF-7	breast:	n/a	chr1:113248141-113248155
28	TEAD4	chr1:113247132-113249018	K562	blood:	n/a	n/a
29	POLR2A	chr1:113247417-113248218	SK-N-MC	brain:	n/a	n/a
30	MAX	chr1:113247317-113248260	A549	lung:	n/a	chr1:113247387-113247397 chr1:113248122-113248131 chr1:113247619-113247629
31	GTF2F1	chr1:113247599-113248141	K562	blood:	n/a	n/a
32	USF2	chr1:113247564-113248028	GM12878	blood:	n/a	n/a
33	CUX1	chr1:113247529-113248226	GM12878	blood:	n/a	n/a
34	RELA	chr1:113247528-113248136	GM19099	blood:	n/a	n/a
35	POLR2A	chr1:113244126-113248331	GM12878	blood:	n/a	n/a
36	FOXP2	chr1:113247645-113248044	SK-N-MC	brain:	n/a	n/a
37	ELF1	chr1:113247177-113248108	GM12878	blood:	n/a	chr1:113247691-113247702 chr1:113247689-113247702
38	ELF1	chr1:113247481-113248249	GM12878	blood:	n/a	chr1:113247691-113247702 chr1:113247689-113247702
39	PML	chr1:113247564-113248135	GM12878	blood:	n/a	n/a
40	SPI1	chr1:113247607-113247942	HL-60	blood:	n/a	chr1:113247706-113247719 chr1:113247690-113247703 chr1:113247796-113247809 chr1:113247689-113247702 chr1:113247690-113247703
41	PML	chr1:113247385-113248408	K562	blood:	n/a	n/a
42	POLR2A	chr1:113247250-113248266	GM12878	blood:	n/a	n/a
43	FOXA1	chr1:113247852-113248412	HepG2	liver:	n/a	n/a
44	HDAC2	chr1:113247542-113248412	MCF-7	breast:	n/a	n/a
45	HDAC2	chr1:113247436-113248385	MCF-7	breast:	n/a	n/a
46	SIX5	chr1:113247629-113248241	A549	lung:	n/a	n/a
47	TAF1	chr1:113247749-113248089	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:113247404-113248219	GM12892	blood:	n/a	n/a
49	TCF7L2	chr1:113247501-113248337	Hela-S3	cervix:	n/a	chr1:113248141-113248155
50	MAZ	chr1:113246923-113250658	IMR90	lung:	n/a	chr1:113247387-113247397 chr1:113248122-113248131

No.	Distal block	Cell Line	Cell type
1	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
2	chr1:113160723..113165170-chr1:113245654..113250392,12	K562	blood:
3	chr1:113246571..113250786-chr1:113261233..113263716,3	K562	blood:
4	chr1:112938761..112941761-chr1:113247568..113249753,3	MCF-7	breast:
5	chr1:113247889..113248665-chr2:21021883..21022878,2	Hela-S3	cervix:
6	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
7	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
8	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
9	chr1:113247278..113248218-chr16:28834319..28834859,2	Hela-S3	cervix:
10	chr1:113247815..113248374-chr6:86384160..86385018,2	Hela-S3	cervix:
11	chr1:113193696..113195497-chr1:113246337..113249077,2	K562	blood:
12	chr1:113247785..113248417-chr16:2205335..2205916,2	Hela-S3	cervix:
13	chr1:113247832..113248380-chr16:30645966..30646947,2	Hela-S3	cervix:
14	chr1:113167976..113172227-chr1:113246480..113250465,5	K562	blood:
15	chr1:112933576..112940137-chr1:113246857..113251993,14	MCF-7	breast:
16	chr1:113008643..113012570-chr1:113247176..113250622,4	MCF-7	breast:
17	chr1:113193696..113198407-chr1:113243250..113250056,8	K562	blood:
18	chr1:113161591..113162551-chr1:113247667..113248390,3	Hela-S3	cervix:
19	chr1:113167944..113171007-chr1:113245720..113249508,3	MCF-7	breast:
20	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
21	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
22	chr1:113161252..113161871-chr1:113247823..113248426,2	MCF-7	breast:
23	chr1:113247324..113248167-chr2:96873509..96874450,2	Hela-S3	cervix:

Variant related genes	Relation type
RHOC	TF binding region
ENSG00000235299	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000118961	Chromatin interaction
ENSG00000184599	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000155363	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12722725	1.00[ASN][1000 genomes]
rs12722910	1.00[ASN][1000 genomes]
rs12724682	1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12736457	1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34611728	1.00[ASN][1000 genomes]
rs34961977	1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs35995150	1.00[ASN][1000 genomes]
rs36087180	1.00[ASN][1000 genomes]
rs61818824	1.00[ASN][1000 genomes]
rs61818825	1.00[ASN][1000 genomes]
rs61818828	1.00[ASN][1000 genomes]
rs6688050	1.00[ASN][1000 genomes]
rs71644398	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv872157	chr1:113247467-113265819	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113229200-113248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:113241600-113249200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:113242000-113248000	Enhancers	Primary B cells from cord blood	blood
4	chr1:113246400-113249000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:113246600-113249000	Flanking Active TSS	Hela-S3	cervix
6	chr1:113246800-113248000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:113246800-113248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:113246800-113248600	Flanking Active TSS	HMEC	breast
9	chr1:113246800-113248800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:113246800-113248800	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr1:113246800-113249000	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:113246800-113249600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:113246800-113249600	Flanking Active TSS	Dnd41	blood
16	chr1:113247000-113248000	Flanking Active TSS	Stomach Mucosa	stomach
17	chr1:113247000-113248000	Flanking Active TSS	HSMM	muscle
18	chr1:113247000-113248600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr1:113247000-113248600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:113247000-113248800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:113247000-113248800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr1:113247000-113248800	Flanking Active TSS	Left Ventricle	heart
23	chr1:113247000-113248800	Flanking Active TSS	Right Ventricle	heart
24	chr1:113247000-113248800	Flanking Active TSS	HUVEC	blood vessel
25	chr1:113247000-113248800	Flanking Active TSS	NH-A	brain
26	chr1:113247000-113249000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:113247000-113249000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr1:113247000-113249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:113247000-113249000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:113247000-113249000	Flanking Active TSS	Fetal Lung	lung
31	chr1:113247000-113249000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr1:113247000-113249000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:113247000-113249000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:113247000-113249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:113247200-113248200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:113247200-113248200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr1:113247200-113248200	Flanking Active TSS	Fetal Thymus	thymus
38	chr1:113247200-113248200	Flanking Active TSS	HepG2	liver
39	chr1:113247200-113248600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:113247200-113248800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:113247200-113248800	Flanking Active TSS	Osteobl	bone
42	chr1:113247200-113249000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:113247200-113249000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:113247200-113249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:113247200-113249000	Flanking Active TSS	K562	blood
46	chr1:113247200-113249400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:113247200-113249400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:113247200-113250400	Active TSS	Aorta	Aorta
49	chr1:113247400-113248000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:113247400-113248000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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