Variant report

Variant	rs543803615
Chromosome Location	chr1:154297540-154297541
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	YY1	chr1:154296951-154298155	H1-hESC	embryonic stem cell:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
2	CTCF	chr1:154296863-154297688	HCT-116	colon:	n/a	n/a
3	TCF12	chr1:154296949-154297904	A549	lung:	n/a	n/a
4	CTCF	chr1:154296731-154298022	A549	lung:	n/a	n/a
5	POLR2A	chr1:154297501-154297565	A549	lung:	n/a	n/a
6	YY1	chr1:154297027-154298458	GM12878	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
7	CTCF	chr1:154297086-154297599	GM19240	blood:	n/a	n/a
8	ZBTB7A	chr1:154296988-154297624	K562	blood:	n/a	n/a
9	YY1	chr1:154296971-154298420	HepG2	liver:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
10	POLR2A	chr1:154297152-154297594	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr1:154296883-154297924	HEK293-T-REx	kidney:	n/a	n/a
12	RCOR1	chr1:154297036-154297883	K562	blood:	n/a	n/a
13	POLR2A	chr1:154297213-154297699	ProgFib	skin:	n/a	n/a
14	CTCF	chr1:154297520-154297670	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
16	YY1	chr1:154297050-154298082	A549	lung:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
17	YY1	chr1:154297021-154298443	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
18	RUNX3	chr1:154296996-154297662	GM12878	blood:	n/a	n/a
19	MAZ	chr1:154297054-154298431	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
21	CTCF	chr1:154297071-154297607	GM19238	blood:	n/a	n/a
22	HCFC1	chr1:154297050-154298131	K562	blood:	n/a	n/a
23	CTCF	chr1:154297067-154297618	K562	blood:	n/a	n/a
24	CTCF	chr1:154296487-154298353	SK-N-SH	brain:	n/a	n/a
25	MAX	chr1:154296939-154298130	A549	lung:	n/a	n/a
26	YY1	chr1:154296959-154298343	SK-N-SH	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
27	YY1	chr1:154297029-154298312	SK-N-SH_RA	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
28	POLR2A	chr1:154297032-154298939	H1-neurons	neurons:	n/a	n/a
29	TAF1	chr1:154297123-154297959	H1-neurons	neurons:	n/a	n/a
30	YY1	chr1:154297408-154298189	SK-N-SH_RA	brain:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
31	SIN3A	chr1:154297071-154299239	H1-hESC	embryonic stem cell:	n/a	chr1:154298851-154298859 chr1:154298384-154298395 chr1:154298686-154298696
32	CTCF	chr1:154297091-154297608	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:154297523-154297541	MCF-7	breast:	n/a	n/a
34	YY1	chr1:154297140-154298122	NT2-D1	testis:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
35	EGR1	chr1:154297135-154297596	K562	blood:	n/a	n/a
36	CTCF	chr1:154297084-154297662	GM12892	blood:	n/a	n/a
37	MTA3	chr1:154296841-154297914	GM12878	blood:	n/a	n/a
38	YY1	chr1:154297457-154298133	ECC-1	luminal epithelium:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
39	YY1	chr1:154297064-154298460	GM12891	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
40	POLR2A	chr1:154297078-154299731	K562	blood:	n/a	n/a
41	ZEB1	chr1:154297068-154297705	GM12878	blood:	n/a	n/a
42	CTCF	chr1:154297460-154297610	GM12870	blood:	n/a	n/a
43	POLR2A	chr1:154297161-154299004	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr1:154297500-154297650	GM12871	blood:	n/a	n/a
45	CTCF	chr1:154297540-154297690	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:154297027-154297561	K562	blood:	n/a	n/a
47	ZNF143	chr1:154297024-154297906	GM12878	blood:	n/a	n/a
48	RCOR1	chr1:154297111-154297913	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:154297190-154297885	SK-N-MC	brain:	n/a	n/a
50	ZBTB7A	chr1:154297105-154297651	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154231693..154234092-chr1:154297283..154300191,2	K562	blood:
2	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:
3	chr1:154194086..154195906-chr1:154295331..154297621,3	K562	blood:
4	chr1:154296971..154297737-chr1:154317688..154318407,2	MCF-7	breast:
5	chr1:154296772..154297582-chr1:154377760..154378418,3	MCF-7	breast:
6	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
7	chr1:154295888..154297702-chr1:154299900..154302561,2	K562	blood:
8	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
9	chr1:154296862..154297663-chr1:154307293..154308165,3	MCF-7	breast:
10	chr1:154297478..154299656-chr1:154316954..154319172,2	MCF-7	breast:
11	chr1:154296724..154297553-chr1:154396976..154397711,2	MCF-7	breast:
12	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:
13	chr1:154194086..154195833-chr1:154296026..154297621,2	K562	blood:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143515	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	esv3437862	chr1:154296853-154299701	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 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	chr1:154296600-154297600	Flanking Active TSS	Dnd41	blood
2	chr1:154296600-154298400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:154297000-154297600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr1:154297000-154297600	Flanking Active TSS	K562	blood
5	chr1:154297000-154297800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:154297000-154297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:154297000-154297800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:154297000-154297800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr1:154297000-154298200	Active TSS	Primary hematopoietic stem cells	blood
10	chr1:154297000-154298400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:154297000-154298400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:154297000-154298600	Active TSS	Brain Anterior Caudate	brain
13	chr1:154297000-154298600	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:154297000-154298600	Active TSS	Brain Germinal Matrix	brain
15	chr1:154297000-154298600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:154297000-154298600	Active TSS	Thymus	Thymus
17	chr1:154297000-154298600	Active TSS	HSMM	muscle
18	chr1:154297000-154298600	Active TSS	HUVEC	blood vessel
19	chr1:154297000-154298600	Active TSS	NHEK	skin
20	chr1:154297000-154299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:154297000-154299000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:154297000-154299000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:154297000-154299000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:154297000-154299000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:154297000-154299000	Active TSS	Right Ventricle	heart
26	chr1:154297000-154299000	Active TSS	Osteobl	bone
27	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
28	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:154297200-154297600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:154297200-154297600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr1:154297200-154297600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:154297200-154297800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:154297200-154297800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr1:154297200-154297800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:154297200-154297800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:154297200-154297800	Flanking Active TSS	Liver	Liver
37	chr1:154297200-154297800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
38	chr1:154297200-154297800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr1:154297200-154297800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr1:154297200-154298000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:154297200-154298000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr1:154297200-154298000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr1:154297200-154298400	Active TSS	Primary B cells from peripheral blood	blood
44	chr1:154297200-154298400	Active TSS	Primary T cells from cord blood	blood
45	chr1:154297200-154298400	Active TSS	Brain Hippocampus Middle	brain
46	chr1:154297200-154298400	Active TSS	Esophagus	oesophagus
47	chr1:154297200-154298400	Active TSS	GM12878-XiMat	blood
48	chr1:154297200-154298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:154297200-154298600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:154297200-154298600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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