Variant report

Variant	rs4921674
Chromosome Location	chr8:19616281-19616282
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:19616160-19616310	SAEC	small airway:	n/a	n/a
2	CTCF	chr8:19616140-19616290	HCM	heart:	n/a	n/a
3	CTCF	chr8:19616160-19616310	AG09309	skin:	n/a	n/a
4	CTCF	chr8:19616175-19616350	GM12891	blood:	n/a	n/a
5	CTCF	chr8:19616160-19616310	GM12865	blood:	n/a	n/a
6	TCF12	chr8:19614811-19616510	A549	lung:	n/a	n/a
7	YY1	chr8:19616201-19616319	K562	blood:	n/a	n/a
8	CTCF	chr8:19616171-19616358	GM19238	blood:	n/a	n/a
9	CTCF	chr8:19616180-19616330	AoAF	blood vessel:	n/a	n/a
10	MXI1	chr8:19616226-19616433	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr8:19616147-19616409	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:19616160-19616310	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr8:19616127-19616363	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:19616052-19616440	K562	blood:	n/a	n/a
15	RAD21	chr8:19616044-19616439	H1-hESC	embryonic stem cell:	n/a	n/a
16	SMC3	chr8:19616079-19616413	GM12878	blood:	n/a	n/a
17	CTCF	chr8:19616140-19616290	NHEK	skin:	n/a	n/a
18	RAD21	chr8:19616044-19616407	GM12878	blood:	n/a	n/a
19	CTCF	chr8:19616220-19616370	GM12871	blood:	n/a	n/a
20	CTCF	chr8:19616160-19616310	NHEK	skin:	n/a	n/a
21	CTCF	chr8:19616187-19616321	Medullo	brain:	n/a	n/a
22	CTCF	chr8:19616180-19616330	GM12875	blood:	n/a	n/a
23	CTCF	chr8:19616200-19616350	GM12866	blood:	n/a	n/a
24	CTCF	chr8:19616160-19616310	K562	blood:	n/a	n/a
25	RAD21	chr8:19616132-19616332	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr8:19616109-19616365	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr8:19616152-19616355	LNCaP	prostate:	n/a	n/a
28	CTCF	chr8:19616180-19616330	GM12874	blood:	n/a	n/a
29	RFX5	chr8:19616258-19616354	HepG2	liver:	n/a	n/a
30	CTCF	chr8:19616190-19616324	GM10248	blood:	n/a	n/a
31	CTCF	chr8:19616160-19616310	HMF	breast:	n/a	n/a
32	MYC	chr8:19616193-19616393	MCF10A-Er-Src	breast:	n/a	n/a
33	CTCF	chr8:19616154-19616342	ProgFib	skin:	n/a	n/a
34	RAD21	chr8:19615975-19616427	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr8:19616163-19616368	Lung_OC	lung:	n/a	n/a
36	CTCF	chr8:19616220-19616370	HFF	foreskin:	n/a	n/a
37	CTCF	chr8:19616160-19616310	HCT-116	colon:	n/a	n/a
38	CTCF	chr8:19616046-19616373	A549	lung:	n/a	n/a
39	CTCF	chr8:19616122-19616390	NHEK	skin:	n/a	n/a
40	CTCF	chr8:19616128-19616367	Gliobla	brain:	n/a	n/a
41	CTCF	chr8:19616220-19616370	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr8:19616160-19616310	SK-N-SH_RA	brain:	n/a	n/a
43	CEBPB	chr8:19615298-19616422	A549	lung:	n/a	n/a
44	RAD21	chr8:19616076-19616381	HepG2	liver:	n/a	n/a
45	CTCF	chr8:19616180-19616330	AG10803	skin:	n/a	n/a
46	CTCF	chr8:19616140-19616290	GM12875	blood:	n/a	n/a
47	CTCF	chr8:19616180-19616330	BE2_C	brain:	n/a	n/a
48	CTCF	chr8:19616200-19616350	A549	lung:	n/a	n/a
49	CTCF	chr8:19616093-19616336	K562	blood:	n/a	n/a
50	CTCF	chr8:19616187-19616301	Kidney_OC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:19616280-19616330	NHDF-neo	bronchial:	n/a
2	chr8:19616280-19616330	K562	blood:	n/a
3	chr8:19616280-19616330	SK-N-SH_RA	brain:	n/a
4	chr8:19616280-19616330	AG04450	lung:	fetal
5	chr8:19616280-19616330	HL-60	blood:	n/a
6	chr8:19616280-19616330	ProgFib	skin:	n/a
7	chr8:19616280-19616330	SK-N-MC	brain:	n/a
8	chr8:19616280-19616330	H1-hESC	embryonic stem cell:	embryo
9	chr8:19616280-19616330	PFSK-1	brain:	n/a
10	chr8:19616280-19616330	HAEpiC	amniotic membrane:	n/a
11	chr8:19616280-19616330	HCM	heart:	n/a
12	chr8:19616280-19616330	HEEpiC	esophagus:	n/a
13	chr8:19616280-19616330	Hela-S3	cervix:	n/a
14	chr8:19616280-19616330	AG04449	skin:	fetal
15	chr8:19616280-19616330	PANC-1	pancreas:	n/a
16	chr8:19616280-19616330	SAEC	small airway:	n/a
17	chr8:19616280-19616330	HMEC	breast:	n/a
18	chr8:19616280-19616330	HRE	kidney:	n/a
19	chr8:19616280-19616330	NT2-D1	testis:	n/a
20	chr8:19616280-19616330	CMK	blood:	n/a
21	chr8:19616280-19616330	U87	brain:	n/a
22	chr8:19616280-19616330	PrEC	prostate:	n/a
23	chr8:19616280-19616330	BE2_C	brain:	n/a
24	chr8:19616280-19616330	NHBE	bronchial:	n/a
25	chr8:19616280-19616330	SK-N-SH	brain:	n/a
26	chr8:19616280-19616330	MCF10A-Er-Src	breast:	n/a
27	chr8:19616280-19616330	SKMC	muscle:	n/a
28	chr8:19616280-19616330	NB4	blood:	n/a
29	chr8:19616280-19616330	HNPCEpiC	eye:	n/a
30	chr8:19616280-19616330	ECC-1	luminal epithelium:	n/a
31	chr8:19616280-19616330	Hepatocyte	liver:	n/a
32	chr8:19616280-19616330	IMR90	lung:	fetal
33	chr8:19616280-19616330	Jurkat	blood:	n/a
34	chr8:19616280-19616330	ovcar-3	ovarian:	n/a
35	chr8:19616280-19616330	AoSMC	blood vessel:	n/a
36	chr8:19616280-19616330	HepG2	liver:	n/a
37	chr8:19616280-19616330	GM12878	blood:	n/a
38	chr8:19616280-19616330	HEK293	kidney:	embryo
39	chr8:19616280-19616330	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:19616280-19616330	HUVEC	blood vessel:	n/a
41	chr8:19616280-19616330	LNCaP	prostate:	n/a
42	chr8:19616280-19616330	BJ	skin:	n/a
43	chr8:19616280-19616330	AG09319	gingival:	n/a
44	chr8:19616280-19616330	T-47D	breast:	n/a
45	chr8:19616280-19616330	HRCEpiC	kidney:	n/a
46	chr8:19616280-19616330	AG10803	skin:	n/a
47	chr8:19616280-19616330	MCF-7	breast:	n/a
48	chr8:19616280-19616330	A549	lung:	n/a
49	chr8:19616280-19616330	GM12892	blood:	n/a
50	chr8:19616280-19616330	AG09309	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19265621..19266481-chr8:19615795..19616681,3	MCF-7	breast:
2	chr8:19316428..19318779-chr8:19615686..19617194,2	MCF-7	breast:
3	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

No data

Variant related genes	Relation type
CSGALNACT1	TF binding region
CSGALNACT1	CpG island
ENSG00000253270	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10503665	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12676683	1.00[ASN][1000 genomes]
rs12676952	0.81[ASN][1000 genomes]
rs17091371	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs35130684	1.00[ASN][1000 genomes]
rs35450343	1.00[ASN][1000 genomes]
rs4262337	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4921676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3481472	chr8:19615507-19617552	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3481473	chr8:19615507-19617552	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
2	chr8:19615400-19616400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19615600-19616400	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:19615600-19616400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:19615600-19616400	Enhancers	Gastric	stomach
6	chr8:19615600-19616400	Enhancers	K562	blood
7	chr8:19615600-19623800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19615800-19616400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr8:19615800-19616400	Active TSS	Brain Cingulate Gyrus	brain
10	chr8:19615800-19616400	Enhancers	Pancreas	Pancrea
11	chr8:19615800-19616600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:19615800-19616600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:19616000-19616400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:19616000-19616400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:19616000-19616400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:19616000-19616600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:19616000-19616600	Enhancers	Placenta	Placenta
18	chr8:19616000-19624400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:19616200-19616400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:19616200-19616400	Enhancers	Primary B cells from cord blood	blood
21	chr8:19616200-19616600	Enhancers	A549	lung

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