Variant report

Variant	rs552291822
Chromosome Location	chr1:155657660-155657661
allele	G/T
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	IRF4	chr1:155657217-155658041	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:155657545-155659203	MCF-7	breast:	n/a	n/a
3	HEY1	chr1:155657296-155657958	K562	blood:	n/a	n/a
4	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:155657536-155659221	HUVEC	blood vessel:	n/a	n/a
7	PAX5	chr1:155657558-155658009	GM12878	blood:	n/a	n/a
8	YY1	chr1:155657483-155659068	A549	lung:	n/a	chr1:155658104-155658116 chr1:155658098-155658118 chr1:155657727-155657738
9	POU2F2	chr1:155657229-155659302	GM12891	blood:	n/a	n/a
10	FOSL2	chr1:155657420-155657846	HepG2	liver:	n/a	n/a
11	TAF1	chr1:155657641-155659177	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:155657564-155659171	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
14	POU2F2	chr1:155657218-155659223	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr1:155657357-155658010	HepG2	liver:	n/a	n/a
16	RXRA	chr1:155657559-155657842	HepG2	liver:	n/a	n/a
17	CHD1	chr1:155657643-155659334	IMR90	lung:	n/a	chr1:155658567-155658577
18	TCF12	chr1:155657392-155657786	GM12878	blood:	n/a	n/a
19	PAX5	chr1:155657546-155657826	GM12878	blood:	n/a	n/a
20	SP1	chr1:155657416-155657927	GM12878	blood:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
21	TAF1	chr1:155657565-155658599	GM12891	blood:	n/a	n/a
22	POLR2A	chr1:155657122-155659540	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr1:155657497-155659217	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:155656935-155659427	GM12892	blood:	n/a	n/a
25	MXI1	chr1:155657636-155660213	SK-N-SH	brain:	n/a	n/a
26	NFIC	chr1:155657384-155659305	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:155657226-155659289	ProgFib	skin:	n/a	n/a
28	SP1	chr1:155657441-155659263	A549	lung:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
29	POLR2A	chr1:155657440-155659380	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr1:155657130-155659466	GM12891	blood:	n/a	n/a
31	RXRA	chr1:155657420-155657745	GM12878	blood:	n/a	n/a
32	SPI1	chr1:155657543-155658205	GM12878	blood:	n/a	chr1:155657725-155657738
33	POLR2A	chr1:155657501-155659247	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:155657270-155659425	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:155657243-155659320	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr1:155657455-155657828	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:155657487-155659441	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr1:155657533-155659270	A549	lung:	n/a	n/a
39	POLR2A	chr1:155657029-155659995	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:155657372-155659550	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr1:155657627-155659133	GM12878	blood:	n/a	chr1:155657692-155657703
42	MYBL2	chr1:155657063-155657864	HepG2	liver:	n/a	n/a
43	TCF12	chr1:155657534-155657831	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:155657296-155659536	HepG2	liver:	n/a	n/a
45	BCL11A	chr1:155657352-155657700	GM12878	blood:	n/a	n/a
46	HEY1	chr1:155656901-155659481	K562	blood:	n/a	n/a
47	POLR2A	chr1:155657572-155659265	U87	brain:	n/a	n/a
48	TAF1	chr1:155657472-155659354	Hela-S3	cervix:	n/a	n/a
49	FOXM1	chr1:155657433-155657895	GM12878	blood:	n/a	n/a
50	PBX3	chr1:155657487-155657775	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
2	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
3	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
4	chr1:155657577..155658554-chr17:56736530..56737192,2	MCF-7	breast:
5	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
6	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
7	chr1:155649685..155651482-chr1:155656249..155657899,2	MCF-7	breast:

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000163374	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv946421	chr1:155656230-155659076	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155634600-155657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:155656200-155657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
5	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
6	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:155656400-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:155656400-155658200	Active TSS	Right Atrium	heart
10	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
11	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:155656400-155659400	Active TSS	Ovary	ovary
13	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:155656400-155659800	Active TSS	Thymus	Thymus
18	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
19	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
20	chr1:155656400-155660200	Active TSS	HSMM	muscle
21	chr1:155656400-155660200	Active TSS	NHLF	lung
22	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:155656600-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:155656600-155657800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:155656600-155657800	Weak transcription	Aorta	Aorta
26	chr1:155656600-155657800	Active TSS	Brain Germinal Matrix	brain
27	chr1:155656600-155657800	Active TSS	Fetal Brain Female	brain
28	chr1:155656600-155657800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:155656600-155657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:155656600-155657800	Weak transcription	Stomach Mucosa	stomach
31	chr1:155656600-155657800	Weak transcription	Spleen	Spleen
32	chr1:155656600-155657800	Active TSS	HepG2	liver
33	chr1:155656600-155658000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:155656600-155659200	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:155656600-155659200	Active TSS	Adipose Nuclei	Adipose
36	chr1:155656600-155659600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:155656600-155659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155656600-155659600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:155656600-155659600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:155656600-155659600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:155656600-155659600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:155656600-155659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:155656600-155659600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr1:155656600-155659600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:155656600-155659600	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:155656600-155659600	Active TSS	Osteobl	bone
47	chr1:155656600-155659800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:155656600-155659800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:155656600-155659800	Active TSS	Brain Hippocampus Middle	brain
50	chr1:155656600-155659800	Active TSS	Fetal Intestine Small	intestine

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