Variant report

Variant	rs145231528
Chromosome Location	chr8:63952222-63952223
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	chr8:63951761-63952289	SK-N-SH_RA	brain:	n/a	n/a
2	CREB1	chr8:63951087-63952280	A549	lung:	n/a	n/a
3	POLR2A	chr8:63951026-63952312	K562	blood:	n/a	n/a
4	CTCF	chr8:63952180-63952330	BE2_C	brain:	n/a	n/a
5	POLR2A	chr8:63951002-63952272	GM18526	blood:	n/a	n/a
6	CREB1	chr8:63951599-63952274	H1-hESC	embryonic stem cell:	n/a	n/a
7	NR2F2	chr8:63951364-63952259	K562	blood:	n/a	n/a
8	RFX5	chr8:63951746-63952284	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:63951031-63952251	K562	blood:	n/a	n/a
10	E2F4	chr8:63950413-63952291	MCF10A-Er-Src	breast:	n/a	chr8:63951146-63951156 chr8:63951515-63951525 chr8:63951372-63951382 chr8:63951368-63951377
11	SP1	chr8:63951040-63952249	A549	lung:	n/a	chr8:63951819-63951831 chr8:63951367-63951379 chr8:63951819-63951831
12	MAX	chr8:63950930-63952256	HepG2	liver:	n/a	chr8:63951368-63951378
13	YY1	chr8:63951882-63952237	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr8:63951732-63952294	U87	brain:	n/a	n/a
15	UBTF	chr8:63952022-63952252	K562	blood:	n/a	n/a
16	CEBPB	chr8:63951865-63952600	Hela-S3	cervix:	n/a	n/a
17	MYC	chr8:63950853-63952676	NB4	blood:	n/a	chr8:63951368-63951378
18	GTF2F1	chr8:63951880-63952239	Hela-S3	cervix:	n/a	chr8:63952219-63952230
19	BHLHE40	chr8:63950992-63952486	K562	blood:	n/a	chr8:63951191-63951207 chr8:63951365-63951381 chr8:63951368-63951384 chr8:63951513-63951529 chr8:63951371-63951387 chr8:63951183-63951199
20	HA-E2F1	chr8:63950764-63952364	MCF-7	breast:	n/a	chr8:63951146-63951156 chr8:63951515-63951525 chr8:63951372-63951382 chr8:63951368-63951377
21	POLR2A	chr8:63951805-63952255	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr8:63952044-63952328	A549	lung:	n/a	n/a
23	POLR2A	chr8:63950946-63952478	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:63950862-63952492	GM12891	blood:	n/a	n/a
25	SMC3	chr8:63951854-63952299	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr8:63950421-63952699	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:63951097-63952386	K562	blood:	n/a	n/a
28	ARID3A	chr8:63951817-63952680	HepG2	liver:	n/a	n/a
29	MXI1	chr8:63950622-63952310	IMR90	lung:	n/a	n/a
30	CREB1	chr8:63951800-63952313	ECC-1	luminal epithelium:	n/a	n/a
31	MYC	chr8:63951992-63952645	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr8:63951892-63952397	K562	blood:	n/a	n/a
33	POLR2A	chr8:63950928-63952329	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr8:63950844-63952439	K562	blood:	n/a	n/a
35	IRF1	chr8:63951087-63952487	K562	blood:	n/a	chr8:63951817-63951831 chr8:63951943-63951952
36	POLR2A	chr8:63951041-63952275	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr8:63950859-63952400	A549	lung:	n/a	chr8:63951368-63951378
38	MAFK	chr8:63951865-63952308	K562	blood:	n/a	n/a
39	RCOR1	chr8:63950963-63952636	K562	blood:	n/a	n/a
40	CREB1	chr8:63951122-63952346	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:63951002-63952259	GM15510	blood:	n/a	n/a
42	SIN3AK20	chr8:63950846-63952314	MCF-7	breast:	n/a	n/a
43	POLR2A	chr8:63951123-63952603	HL-60	blood:	n/a	n/a
44	IRF1	chr8:63950565-63952526	K562	blood:	n/a	chr8:63951817-63951831 chr8:63951943-63951952
45	MAX	chr8:63950938-63952364	HCT-116	colon:	n/a	chr8:63951368-63951378
46	POLR2A	chr8:63950828-63952256	SK-N-MC	brain:	n/a	n/a
47	MXI1	chr8:63951883-63952353	Hela-S3	cervix:	n/a	n/a
48	HEY1	chr8:63951045-63952359	HepG2	liver:	n/a	chr8:63951135-63951150 chr8:63951524-63951539 chr8:63951400-63951415
49	MAX	chr8:63951093-63952337	HepG2	liver:	n/a	chr8:63951368-63951378
50	CREB1	chr8:63951017-63952294	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
2	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
3	chr8:63952036..63954071-chr8:63997414..63999820,2	MCF-7	breast:
4	chr8:63951570..63952420-chr9:131419013..131419573,2	NB4	blood:
5	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
6	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
7	chr8:63932840..63934408-chr8:63951913..63953581,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKAIN3-9	chr8:63951612-63954212	NONHSAT126917

Variant related genes	Relation type
GGH	TF binding region
ENSG00000137561	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000119333	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000251127	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3326059	chr8:63950223-63952971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:63950000-63952600	Active TSS	NHLF	lung
4	chr8:63950200-63952400	Active TSS	NHDF-Ad	bronchial
5	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:63950200-63952800	Active TSS	K562	blood
7	chr8:63950400-63952400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:63950400-63952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:63950400-63952400	Active TSS	Fetal Brain Female	brain
12	chr8:63950400-63952600	Active TSS	Brain Germinal Matrix	brain
13	chr8:63950600-63952400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:63950600-63952400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:63950600-63952400	Active TSS	Brain Substantia Nigra	brain
16	chr8:63950600-63952400	Active TSS	Fetal Stomach	stomach
17	chr8:63950600-63952600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:63950600-63952600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:63950600-63952600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:63950600-63952600	Active TSS	Rectal Smooth Muscle	rectum
21	chr8:63950600-63953000	Active TSS	A549	lung
22	chr8:63950800-63952400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:63950800-63952400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:63950800-63952400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:63950800-63952400	Active TSS	Brain Angular Gyrus	brain
26	chr8:63950800-63952400	Active TSS	Brain Hippocampus Middle	brain
27	chr8:63950800-63952400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:63950800-63952400	Active TSS	Fetal Muscle Trunk	muscle
29	chr8:63950800-63952400	Active TSS	Fetal Muscle Leg	muscle
30	chr8:63950800-63952400	Active TSS	Psoas Muscle	Psoas
31	chr8:63950800-63952400	Active TSS	Right Atrium	heart
32	chr8:63950800-63952400	Active TSS	Right Ventricle	heart
33	chr8:63950800-63952400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:63950800-63952600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:63950800-63952600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:63950800-63952600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:63950800-63952600	Active TSS	Fetal Kidney	kidney
38	chr8:63950800-63952600	Active TSS	Placenta	Placenta
39	chr8:63950800-63952600	Active TSS	Stomach Smooth Muscle	stomach
40	chr8:63951000-63952400	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr8:63951000-63952400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:63951000-63952400	Active TSS	Fetal Lung	lung
43	chr8:63951000-63952400	Active TSS	NH-A	brain
44	chr8:63951000-63952600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:63951000-63952600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:63951000-63952600	Active TSS	Primary T cells from cord blood	blood
47	chr8:63951000-63952600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:63951000-63952600	Active TSS	Aorta	Aorta
49	chr8:63951000-63952600	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:63951000-63952600	Active TSS	Fetal Brain Male	brain

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