Variant report

Variant	rs527464132
Chromosome Location	chr1:154298057-154298058
allele	C/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	CREB1	chr1:154297858-154298107	A549	lung:	n/a	n/a
2	CREB1	chr1:154297773-154298281	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr1:154297859-154298372	K562	blood:	n/a	chr1:154298212-154298222
4	CCNT2	chr1:154298008-154298521	K562	blood:	n/a	chr1:154298266-154298275
5	YY1	chr1:154296951-154298155	H1-hESC	embryonic stem cell:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
6	HEY1	chr1:154297974-154298277	HepG2	liver:	n/a	chr1:154298243-154298258 chr1:154298208-154298223 chr1:154298246-154298261
7	YY1	chr1:154297570-154298403	K562	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
8	CREB1	chr1:154297707-154298393	A549	lung:	n/a	n/a
9	SIN3AK20	chr1:154297979-154298373	PANC-1	pancreas:	n/a	n/a
10	YY1	chr1:154297666-154298071	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
11	POLR2A	chr1:154297972-154298187	HCT-116	colon:	n/a	n/a
12	YY1	chr1:154297709-154298203	GM12891	blood:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
13	YY1	chr1:154297027-154298458	GM12878	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
14	EBF1	chr1:154297855-154298250	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:154297872-154298272	GM15510	blood:	n/a	n/a
16	YY1	chr1:154296971-154298420	HepG2	liver:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
17	GABPA	chr1:154297740-154298162	SK-N-SH	brain:	n/a	n/a
18	GABPA	chr1:154297830-154298103	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
20	YY1	chr1:154297050-154298082	A549	lung:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
21	YY1	chr1:154297021-154298443	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
22	EGR1	chr1:154297968-154298241	GM12878	blood:	n/a	chr1:154298212-154298222
23	CREB1	chr1:154297796-154298230	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr1:154298056-154298179	GM12878	blood:	n/a	n/a
25	MAZ	chr1:154297054-154298431	GM12878	blood:	n/a	n/a
26	CREB1	chr1:154297767-154298223	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr1:154297940-154298262	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
29	MAX	chr1:154297981-154299172	K562	blood:	n/a	n/a
30	EBF1	chr1:154297838-154298344	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr1:154297950-154298587	K562	blood:	n/a	chr1:154298430-154298437
32	HCFC1	chr1:154297050-154298131	K562	blood:	n/a	n/a
33	ZBTB7A	chr1:154297806-154298601	K562	blood:	n/a	chr1:154298430-154298437
34	CTCF	chr1:154296487-154298353	SK-N-SH	brain:	n/a	n/a
35	MAX	chr1:154296939-154298130	A549	lung:	n/a	n/a
36	POLR2A	chr1:154297969-154298343	GM12892	blood:	n/a	n/a
37	YY1	chr1:154296959-154298343	SK-N-SH	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
38	CTCF	chr1:154297840-154298130	GM12873	blood:	n/a	n/a
39	YY1	chr1:154297029-154298312	SK-N-SH_RA	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
40	POLR2A	chr1:154297032-154298939	H1-neurons	neurons:	n/a	n/a
41	GABPA	chr1:154297719-154298167	A549	lung:	n/a	n/a
42	ELF1	chr1:154297801-154298203	K562	blood:	n/a	n/a
43	YY1	chr1:154297408-154298189	SK-N-SH_RA	brain:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
44	SIN3A	chr1:154297071-154299239	H1-hESC	embryonic stem cell:	n/a	chr1:154298851-154298859 chr1:154298384-154298395 chr1:154298686-154298696
45	YY1	chr1:154297638-154298062	K562	blood:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
46	YY1	chr1:154297140-154298122	NT2-D1	testis:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
47	GABPA	chr1:154297753-154298321	K562	blood:	n/a	n/a
48	EBF1	chr1:154297953-154298138	GM12878	blood:	n/a	n/a
49	YY1	chr1:154297573-154298089	HCT-116	colon:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
50	GABPA	chr1:154297823-154298162	HepG2	liver:	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	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
4	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
5	chr1:154297478..154299656-chr1:154316954..154319172,2	MCF-7	breast:
6	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143569	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000228013	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154296600-154298400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:154297000-154298200	Active TSS	Primary hematopoietic stem cells	blood
3	chr1:154297000-154298400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:154297000-154298400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:154297000-154298600	Active TSS	Brain Anterior Caudate	brain
6	chr1:154297000-154298600	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:154297000-154298600	Active TSS	Brain Germinal Matrix	brain
8	chr1:154297000-154298600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:154297000-154298600	Active TSS	Thymus	Thymus
10	chr1:154297000-154298600	Active TSS	HSMM	muscle
11	chr1:154297000-154298600	Active TSS	HUVEC	blood vessel
12	chr1:154297000-154298600	Active TSS	NHEK	skin
13	chr1:154297000-154299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:154297000-154299000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:154297000-154299000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:154297000-154299000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:154297000-154299000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:154297000-154299000	Active TSS	Right Ventricle	heart
19	chr1:154297000-154299000	Active TSS	Osteobl	bone
20	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
21	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:154297200-154298400	Active TSS	Primary B cells from peripheral blood	blood
23	chr1:154297200-154298400	Active TSS	Primary T cells from cord blood	blood
24	chr1:154297200-154298400	Active TSS	Brain Hippocampus Middle	brain
25	chr1:154297200-154298400	Active TSS	Esophagus	oesophagus
26	chr1:154297200-154298400	Active TSS	GM12878-XiMat	blood
27	chr1:154297200-154298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:154297200-154298600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:154297200-154298600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:154297200-154298600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:154297200-154298600	Active TSS	Brain Angular Gyrus	brain
32	chr1:154297200-154298600	Active TSS	Colon Smooth Muscle	Colon
33	chr1:154297200-154298600	Active TSS	Fetal Brain Female	brain
34	chr1:154297200-154298600	Active TSS	Fetal Heart	heart
35	chr1:154297200-154298600	Active TSS	Left Ventricle	heart
36	chr1:154297200-154298600	Active TSS	Lung	lung
37	chr1:154297200-154298600	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:154297200-154298800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:154297200-154298800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:154297200-154298800	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:154297200-154298800	Active TSS	Brain Substantia Nigra	brain
42	chr1:154297200-154298800	Active TSS	Small Intestine	intestine
43	chr1:154297200-154298800	Bivalent/Poised TSS	HepG2	liver
44	chr1:154297200-154299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:154297200-154299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:154297200-154299000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:154297200-154299000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154297200-154299000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:154297200-154299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:154297200-154299000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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