Variant report

Variant	rs548234525
Chromosome Location	chr1:155661848-155661849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155661495-155662425	K562	blood:	n/a	n/a
2	NR2F2	chr1:155661603-155662430	K562	blood:	n/a	n/a
3	CBX3	chr1:155660893-155662671	K562	blood:	n/a	n/a
4	GATA2	chr1:155661591-155662347	K562	blood:	n/a	n/a
5	MAX	chr1:155661693-155662302	K562	blood:	n/a	n/a
6	CEBPB	chr1:155661694-155662237	K562	blood:	n/a	n/a
7	ATF1	chr1:155661656-155662250	K562	blood:	n/a	n/a
8	STAT5A	chr1:155661642-155662371	K562	blood:	n/a	n/a
9	YY1	chr1:155661618-155661867	K562	blood:	n/a	n/a
10	PML	chr1:155661723-155662305	K562	blood:	n/a	n/a
11	SETDB1	chr1:155661102-155663038	K562	blood:	n/a	n/a
12	GATA1	chr1:155661632-155662263	PBDE	blood:	n/a	n/a
13	STAT5A	chr1:155661716-155662179	K562	blood:	n/a	n/a
14	TRIM28	chr1:155661810-155662311	K562	blood:	n/a	n/a
15	EP300	chr1:155661707-155662283	K562	blood:	n/a	n/a
16	SETDB1	chr1:155661844-155662343	U2OS	brain:	n/a	n/a
17	TBL1XR1	chr1:155661667-155662248	K562	blood:	n/a	n/a
18	JUN	chr1:155661537-155662636	K562	blood:	n/a	n/a
19	POLR2A	chr1:155661798-155662231	GM12892	blood:	n/a	n/a
20	KAP1	chr1:155661095-155662950	K562	blood:	n/a	n/a
21	TRIM28	chr1:155661627-155662659	K562	blood:	n/a	n/a
22	CEBPD	chr1:155661726-155662303	K562	blood:	n/a	n/a
23	POLR2A	chr1:155661525-155662324	GM12892	blood:	n/a	n/a
24	GATA2	chr1:155661723-155662169	K562	blood:	n/a	n/a
25	GABPA	chr1:155661744-155662173	K562	blood:	n/a	n/a
26	PML	chr1:155661647-155662400	K562	blood:	n/a	n/a
27	RCOR1	chr1:155661724-155662201	K562	blood:	n/a	n/a
28	POLR2A	chr1:155661734-155662323	K562	blood:	n/a	n/a
29	POLR2A	chr1:155661515-155662344	K562	blood:	n/a	n/a
30	CBX3	chr1:155661692-155662517	K562	blood:	n/a	n/a
31	POLR2A	chr1:155661644-155662133	GM12878	blood:	n/a	n/a
32	TAL1	chr1:155661700-155662261	K562	blood:	n/a	n/a
33	BCLAF1	chr1:155661762-155662351	K562	blood:	n/a	n/a
34	JUND	chr1:155661634-155662229	K562	blood:	n/a	n/a
35	TEAD4	chr1:155661606-155662274	K562	blood:	n/a	n/a
36	CEBPD	chr1:155661775-155662304	K562	blood:	n/a	n/a
37	NR2F2	chr1:155661733-155662284	K562	blood:	n/a	n/a
38	TEAD4	chr1:155661586-155662363	K562	blood:	n/a	n/a
39	SETDB1	chr1:155661677-155662351	K562	blood:	n/a	n/a
40	POLR2A	chr1:155661588-155662452	PFSK-1	brain:	n/a	n/a
41	IRF1	chr1:155661836-155662265	K562	blood:	n/a	n/a
42	USF1	chr1:155661823-155662237	K562	blood:	n/a	n/a
43	POLR2A	chr1:155661741-155662226	K562	blood:	n/a	n/a
44	POU2F2	chr1:155661537-155662188	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155660408..155662039-chr1:156023263..156025493,2	K562	blood:
2	chr1:155658633..155662039-chr1:156022948..156025065,3	K562	blood:

No data

Variant related genes	Relation type
YY1AP1	TF binding region
ENSG00000160803	Chromatin interaction
ENSG00000116586	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	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
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
13	esv3339868	chr1:155658028-155662426	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
14	esv3529730	chr1:155658528-155665576	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
15	esv3529724	chr1:155659028-155665126	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
16	esv3319429	chr1:155659028-155665326	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
17	esv3452512	chr1:155659621-155664566	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
18	esv3529726	chr1:155659644-155664581	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
19	esv3529725	chr1:155659667-155664604	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
20	esv3452511	chr1:155659675-155664534	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
21	esv3529727	chr1:155659701-155664609	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
22	esv3452510	chr1:155659746-155664469	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
23	esv15603	chr1:155659754-155664482	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
24	esv3529731	chr1:155659756-155664467	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
25	esv3452513	chr1:155659760-155664465	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
26	esv3529732	chr1:155659760-155664465	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
27	nsv514012	chr1:155659776-155664208	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
28	esv3319431	chr1:155660853-155664201	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
29	esv3319432	chr1:155660853-155664201	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
30	esv2421343	chr1:155661227-155663357	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
31	nsv442072	chr1:155661227-155663357	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155659400-155668200	Weak transcription	Aorta	Aorta
2	chr1:155659600-155664600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:155659600-155666400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155659800-155664600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:155660000-155667600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:155660200-155662000	Transcr. at gene 5' and 3'	K562	blood
7	chr1:155660200-155662200	Weak transcription	Fetal Lung	lung
8	chr1:155660200-155663400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:155660200-155664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:155660200-155664200	Weak transcription	Thymus	Thymus
11	chr1:155660200-155664600	Weak transcription	NHDF-Ad	bronchial
12	chr1:155660200-155665000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:155660200-155665000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:155660200-155665400	Weak transcription	Ovary	ovary
15	chr1:155660200-155666800	Weak transcription	Fetal Stomach	stomach
16	chr1:155660200-155667000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr1:155660200-155667000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:155660200-155668000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:155660200-155698800	Weak transcription	NHLF	lung
20	chr1:155660400-155662000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:155660400-155662600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:155660400-155663000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:155660400-155663200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:155660400-155663200	Strong transcription	Osteobl	bone
25	chr1:155660400-155663800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:155660400-155664000	Weak transcription	Left Ventricle	heart
27	chr1:155660400-155664000	Weak transcription	Psoas Muscle	Psoas
28	chr1:155660400-155664000	Weak transcription	Right Ventricle	heart
29	chr1:155660400-155664000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:155660400-155664200	Weak transcription	Pancreas	Pancrea
31	chr1:155660400-155664200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:155660400-155664400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:155660400-155664800	Weak transcription	Brain Anterior Caudate	brain
34	chr1:155660400-155665000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:155660400-155665000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:155660400-155665000	Weak transcription	Gastric	stomach
37	chr1:155660400-155668400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:155660400-155671000	Weak transcription	Esophagus	oesophagus
39	chr1:155660400-155675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:155660400-155682800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:155660400-155688800	Weak transcription	Lung	lung
42	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
43	chr1:155660600-155662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:155660600-155662400	Weak transcription	Fetal Brain Male	brain
45	chr1:155660600-155663800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:155660600-155664000	Weak transcription	Stomach Mucosa	stomach
47	chr1:155660600-155664200	Weak transcription	Liver	Liver
48	chr1:155660600-155664200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:155660600-155664200	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:155660600-155664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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