Variant report

Variant	rs563241298
Chromosome Location	chr8:63952111-63952112
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	CTCF	chr8:63952020-63952170	AG09309	skin:	n/a	n/a
2	YY1	chr8:63951761-63952289	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr8:63952040-63952190	HAc	cerebellar:	n/a	n/a
4	CREB1	chr8:63951087-63952280	A549	lung:	n/a	n/a
5	POLR2A	chr8:63951026-63952312	K562	blood:	n/a	n/a
6	POLR2A	chr8:63951100-63952139	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:63950997-63952208	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:63951036-63952207	A549	lung:	n/a	n/a
9	POLR2A	chr8:63951002-63952272	GM18526	blood:	n/a	n/a
10	POLR2A	chr8:63951061-63952161	MCF10A-Er-Src	breast:	n/a	n/a
11	CREB1	chr8:63951599-63952274	H1-hESC	embryonic stem cell:	n/a	n/a
12	NR2F2	chr8:63951364-63952259	K562	blood:	n/a	n/a
13	CTCF	chr8:63952020-63952170	AG09319	gingival:	n/a	n/a
14	CTCF	chr8:63952020-63952170	HL-60	blood:	n/a	n/a
15	RFX5	chr8:63951746-63952284	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:63951031-63952251	K562	blood:	n/a	n/a
17	E2F4	chr8:63950413-63952291	MCF10A-Er-Src	breast:	n/a	chr8:63951146-63951156 chr8:63951515-63951525 chr8:63951372-63951382 chr8:63951368-63951377
18	SP1	chr8:63951040-63952249	A549	lung:	n/a	chr8:63951819-63951831 chr8:63951367-63951379 chr8:63951819-63951831
19	POLR2A	chr8:63952035-63952217	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:63952000-63952150	HMF	breast:	n/a	n/a
21	MAX	chr8:63950930-63952256	HepG2	liver:	n/a	chr8:63951368-63951378
22	CTCF	chr8:63952019-63952214	HUVEC	blood vessel:	n/a	n/a
23	YY1	chr8:63951882-63952237	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr8:63951732-63952294	U87	brain:	n/a	n/a
25	UBTF	chr8:63952022-63952252	K562	blood:	n/a	n/a
26	CEBPB	chr8:63951865-63952600	Hela-S3	cervix:	n/a	n/a
27	MYC	chr8:63950853-63952676	NB4	blood:	n/a	chr8:63951368-63951378
28	GTF2F1	chr8:63951880-63952239	Hela-S3	cervix:	n/a	chr8:63952219-63952230
29	CTCF	chr8:63952020-63952170	WERI-Rb-1	eye:	n/a	n/a
30	ZBTB7A	chr8:63951134-63952143	K562	blood:	n/a	chr8:63951922-63951933 chr8:63951918-63951932
31	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
32	HA-E2F1	chr8:63950764-63952364	MCF-7	breast:	n/a	chr8:63951146-63951156 chr8:63951515-63951525 chr8:63951372-63951382 chr8:63951368-63951377
33	MAX	chr8:63951095-63952130	H1-hESC	embryonic stem cell:	n/a	chr8:63951368-63951378
34	POLR2A	chr8:63951805-63952255	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr8:63952044-63952328	A549	lung:	n/a	n/a
36	POLR2A	chr8:63950946-63952478	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:63950862-63952492	GM12891	blood:	n/a	n/a
38	YY1	chr8:63951968-63952157	HCT-116	colon:	n/a	n/a
39	SMC3	chr8:63951854-63952299	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr8:63950421-63952699	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr8:63952020-63952170	BJ	skin:	n/a	n/a
42	MAX	chr8:63950980-63952218	MCF-7	breast:	n/a	chr8:63951368-63951378
43	YY1	chr8:63950961-63952208	H1-hESC	embryonic stem cell:	n/a	chr8:63951518-63951532 chr8:63951515-63951529 chr8:63951145-63951154 chr8:63951488-63951499
44	POLR2A	chr8:63951118-63952183	GM10847	blood:	n/a	n/a
45	CTCF	chr8:63952040-63952190	HRPEpiC	eye:	n/a	n/a
46	POLR2A	chr8:63951097-63952386	K562	blood:	n/a	n/a
47	CTCF	chr8:63951980-63952130	AG04449	skin:	n/a	n/a
48	ARID3A	chr8:63951817-63952680	HepG2	liver:	n/a	n/a
49	CTCF	chr8:63952020-63952170	HCM	heart:	n/a	n/a
50	HMGN3	chr8:63951084-63952181	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	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:
8	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
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000119333	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000137561	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:125 , 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	chr8:63950000-63952200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:63950000-63952600	Active TSS	NHLF	lung
5	chr8:63950200-63952200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:63950200-63952400	Active TSS	NHDF-Ad	bronchial
7	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:63950200-63952800	Active TSS	K562	blood
9	chr8:63950400-63952200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:63950400-63952200	Active TSS	Fetal Intestine Large	intestine
11	chr8:63950400-63952400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:63950400-63952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:63950400-63952400	Active TSS	Fetal Brain Female	brain
16	chr8:63950400-63952600	Active TSS	Brain Germinal Matrix	brain
17	chr8:63950600-63952200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:63950600-63952200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:63950600-63952200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:63950600-63952200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:63950600-63952200	Active TSS	Brain Anterior Caudate	brain
22	chr8:63950600-63952200	Active TSS	Thymus	Thymus
23	chr8:63950600-63952200	Active TSS	HSMM	muscle
24	chr8:63950600-63952200	Active TSS	HSMMtube	muscle
25	chr8:63950600-63952200	Active TSS	Osteobl	bone
26	chr8:63950600-63952400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:63950600-63952400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:63950600-63952400	Active TSS	Brain Substantia Nigra	brain
29	chr8:63950600-63952400	Active TSS	Fetal Stomach	stomach
30	chr8:63950600-63952600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr8:63950600-63952600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:63950600-63952600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:63950600-63952600	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:63950600-63953000	Active TSS	A549	lung
35	chr8:63950800-63952200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:63950800-63952200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:63950800-63952200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:63950800-63952200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:63950800-63952200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:63950800-63952200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:63950800-63952200	Active TSS	Colonic Mucosa	Colon
42	chr8:63950800-63952200	Active TSS	Colon Smooth Muscle	Colon
43	chr8:63950800-63952200	Active TSS	Fetal Intestine Small	intestine
44	chr8:63950800-63952200	Active TSS	Ovary	ovary
45	chr8:63950800-63952200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr8:63950800-63952200	Active TSS	GM12878-XiMat	blood
47	chr8:63950800-63952200	Active TSS	Hela-S3	cervix
48	chr8:63950800-63952200	Active TSS	NHEK	skin
49	chr8:63950800-63952400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:63950800-63952400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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