Variant report

Variant	rs183834458
Chromosome Location	chr8:61429185-61429186
allele	A/C
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	POLR2A	chr8:61429095-61429384	GM12891	blood:	n/a	n/a
2	TCF3	chr8:61429088-61430234	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:61428943-61430095	A549	lung:	n/a	n/a
4	POU2F2	chr8:61429175-61429408	GM12878	blood:	n/a	n/a
5	HEY1	chr8:61428757-61430263	K562	blood:	n/a	chr8:61429518-61429533 chr8:61429411-61429426 chr8:61429478-61429493
6	MAX	chr8:61429003-61429769	A549	lung:	n/a	n/a
7	TBL1XR1	chr8:61429161-61430286	GM12878	blood:	n/a	n/a
8	TAF1	chr8:61429073-61430334	K562	blood:	n/a	n/a
9	POLR2A	chr8:61429077-61430326	K562	blood:	n/a	n/a
10	POLR2A	chr8:61428919-61430342	GM12892	blood:	n/a	n/a
11	ZNF143	chr8:61428975-61429299	Hela-S3	cervix:	n/a	n/a
12	YY1	chr8:61428746-61430299	K562	blood:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429064-61429074 chr8:61429477-61429491
13	POLR2A	chr8:61428945-61430245	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr8:61428935-61429818	SK-N-SH	brain:	n/a	n/a
15	SP1	chr8:61428899-61429868	A549	lung:	n/a	chr8:61429518-61429530 chr8:61429513-61429525 chr8:61429115-61429127 chr8:61429344-61429356 chr8:61429514-61429523 chr8:61429116-61429130 chr8:61429345-61429354 chr8:61429513-61429525 chr8:61429116-61429126 chr8:61429515-61429524 chr8:61429117-61429126 chr8:61429344-61429356
16	MAZ	chr8:61428567-61430345	IMR90	lung:	n/a	n/a
17	CREB1	chr8:61429042-61430224	A549	lung:	n/a	n/a
18	POLR2A	chr8:61428938-61430272	ProgFib	skin:	n/a	n/a
19	IRF1	chr8:61429014-61429918	K562	blood:	n/a	chr8:61429513-61429527 chr8:61429342-61429356 chr8:61429045-61429058
20	RAD21	chr8:61429158-61429204	H1-hESC	embryonic stem cell:	n/a	chr8:61429169-61429179
21	YY1	chr8:61429149-61430020	ECC-1	luminal epithelium:	n/a	chr8:61429480-61429494 chr8:61429932-61429949 chr8:61429478-61429492 chr8:61429477-61429486 chr8:61429167-61429181 chr8:61429522-61429531 chr8:61429976-61429990 chr8:61429477-61429491
22	CREB1	chr8:61428849-61430349	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:61428858-61429362	GM12891	blood:	n/a	n/a
24	BHLHE40	chr8:61429104-61429729	GM12878	blood:	n/a	chr8:61429480-61429496 chr8:61429524-61429540 chr8:61429477-61429493 chr8:61429558-61429574
25	POLR2A	chr8:61428841-61430327	Raji	blood:	n/a	n/a
26	NANOG	chr8:61429131-61429522	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr8:61429122-61430158	K562	blood:	n/a	n/a
28	POLR2A	chr8:61428962-61429720	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr8:61428934-61430189	K562	blood:	n/a	n/a
30	POLR2A	chr8:61429040-61430314	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
32	PML	chr8:61428972-61430190	K562	blood:	n/a	n/a
33	POLR2A	chr8:61429049-61430325	GM18526	blood:	n/a	n/a
34	POLR2A	chr8:61428983-61430241	K562	blood:	n/a	n/a
35	MAX	chr8:61428863-61430371	A549	lung:	n/a	n/a
36	SIN3AK20	chr8:61429143-61429375	HepG2	liver:	n/a	n/a
37	TBP	chr8:61429141-61430844	HepG2	liver:	n/a	n/a
38	TAF1	chr8:61428884-61430177	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr8:61428929-61430364	U87	brain:	n/a	n/a
40	CBX3	chr8:61428742-61429316	K562	blood:	n/a	n/a
41	GTF3C2	chr8:61428700-61429206	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr8:61429118-61429401	HepG2	liver:	n/a	n/a
43	ETS1	chr8:61428995-61429395	A549	lung:	n/a	n/a
44	POLR2A	chr8:61429021-61429373	GM12892	blood:	n/a	n/a
45	MXI1	chr8:61428929-61430766	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:61429054-61429779	HepG2	liver:	n/a	n/a
47	PAX5	chr8:61429169-61429580	GM12891	blood:	n/a	n/a
48	POLR2A	chr8:61429010-61429809	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr8:61429094-61430642	K562	blood:	n/a	chr8:61430492-61430501
50	TCF3	chr8:61429162-61429360	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61429175-61429225	GM12878	blood:	n/a
2	chr8:61429175-61429225	HRCEpiC	kidney:	n/a
3	chr8:61429175-61429225	A549	lung:	n/a
4	chr8:61429175-61429225	CMK	blood:	n/a
5	chr8:61429175-61429225	GM12892	blood:	n/a
6	chr8:61429175-61429225	SAEC	small airway:	n/a
7	chr8:61429175-61429225	AG09319	gingival:	n/a
8	chr8:61429175-61429225	ProgFib	skin:	n/a
9	chr8:61429175-61429225	H1-hESC	embryonic stem cell:	embryo
10	chr8:61429175-61429225	NB4	blood:	n/a
11	chr8:61429175-61429225	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:61429175-61429225	PANC-1	pancreas:	n/a
13	chr8:61429175-61429225	BE2_C	brain:	n/a
14	chr8:61429175-61429225	SKMC	muscle:	n/a
15	chr8:61429175-61429225	NHDF-neo	bronchial:	n/a
16	chr8:61429175-61429225	HMEC	breast:	n/a
17	chr8:61429175-61429225	U87	brain:	n/a
18	chr8:61429175-61429225	HEK293	kidney:	embryo
19	chr8:61429175-61429225	HIPEpiC	eye:	n/a
20	chr8:61429175-61429225	K562	blood:	n/a
21	chr8:61429175-61429225	SK-N-SH	brain:	n/a
22	chr8:61429175-61429225	T-47D	breast:	n/a
23	chr8:61429175-61429225	ECC-1	luminal epithelium:	n/a
24	chr8:61429175-61429225	LNCaP	prostate:	n/a
25	chr8:61429175-61429225	Hela-S3	cervix:	n/a
26	chr8:61429175-61429225	SK-N-SH_RA	brain:	n/a
27	chr8:61429175-61429225	HCM	heart:	n/a
28	chr8:61429175-61429225	HL-60	blood:	n/a
29	chr8:61429175-61429225	AG04449	skin:	fetal
30	chr8:61429175-61429225	AoSMC	blood vessel:	n/a
31	chr8:61429175-61429225	IMR90	lung:	fetal
32	chr8:61429175-61429225	GM06990	blood:	n/a
33	chr8:61429175-61429225	HRPEpiC	eye:	n/a
34	chr8:61429175-61429225	GM19239	blood:	n/a
35	chr8:61429175-61429225	SK-N-MC	brain:	n/a
36	chr8:61429175-61429225	MCF-7	breast:	n/a
37	chr8:61429175-61429225	AG09309	skin:	n/a
38	chr8:61429175-61429225	NH-A	brain:	n/a
39	chr8:61429175-61429225	BJ	skin:	n/a
40	chr8:61429175-61429225	Caco-2	colon:	n/a
41	chr8:61429175-61429225	HepG2	liver:	n/a
42	chr8:61429175-61429225	RPTEC	kidney:	n/a
43	chr8:61429175-61429225	AG04450	lung:	fetal
44	chr8:61429175-61429225	ovcar-3	ovarian:	n/a
45	chr8:61429175-61429225	PFSK-1	brain:	n/a
46	chr8:61429175-61429225	GM12891	blood:	n/a
47	chr8:61429175-61429225	HAEpiC	amniotic membrane:	n/a
48	chr8:61429175-61429225	HCF	heart:	n/a
49	chr8:61429175-61429225	Jurkat	blood:	n/a
50	chr8:61429175-61429225	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
2	chr15:41221068..41222014-chr8:61428824..61429617,2	Hela-S3	cervix:
3	chr1:156720075..156720930-chr8:61429122..61429936,2	Hela-S3	cervix:
4	chr8:61419134..61423375-chr8:61426566..61429459,5	K562	blood:
5	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
6	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
7	chr11:62572548..62573069-chr8:61428935..61429617,2	Hela-S3	cervix:
8	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-3	chr8:61429157-61429339	ENSG00000251396
2	lnc-CA8-3	chr8:61429157-61429354	ENSG00000251396

Variant related genes	Relation type
RAB2A	TF binding region
RAB2A	CpG island
ENSG00000143294	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000171316	Chromatin interaction
ENSG00000128917	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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3398933	chr8:61428423-61431271	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3368567	chr8:61428748-61430846	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:61428200-61429600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61428400-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
5	chr8:61428400-61430800	Active TSS	HMEC	breast
6	chr8:61428400-61430800	Active TSS	NHEK	skin
7	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:61428400-61431400	Active TSS	A549	lung
10	chr8:61428400-61431400	Active TSS	NHLF	lung
11	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
12	chr8:61428600-61429200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:61428600-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:61428600-61429200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:61428600-61429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:61428600-61430400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:61428600-61430400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:61428600-61430400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:61428600-61430600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:61428600-61430600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel
22	chr8:61428600-61431000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:61428600-61431200	Active TSS	Fetal Intestine Small	intestine
24	chr8:61428600-61431200	Active TSS	Hela-S3	cervix
25	chr8:61428600-61431200	Active TSS	K562	blood
26	chr8:61428600-61431400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:61428600-61431400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:61428600-61431400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:61428600-61432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:61428600-61432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
33	chr8:61428800-61429200	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr8:61428800-61429200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr8:61428800-61429200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:61428800-61429200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr8:61428800-61429200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr8:61428800-61429200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:61428800-61429200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr8:61428800-61429200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:61428800-61429200	Active TSS	Fetal Brain Male	brain
42	chr8:61428800-61429200	Active TSS	Fetal Heart	heart
43	chr8:61428800-61429200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr8:61428800-61429200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr8:61428800-61429200	Flanking Active TSS	Dnd41	blood
46	chr8:61428800-61429600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:61428800-61429600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:61428800-61429600	Active TSS	Brain Germinal Matrix	brain
49	chr8:61428800-61430200	Active TSS	Primary B cells from cord blood	blood
50	chr8:61428800-61430200	Active TSS	Cortex derived primary cultured neurospheres	brain

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