Variant report

Variant	rs7841467
Chromosome Location	chr8:48172406-48172407
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:48171907-48172444	H1-hESC	embryonic stem cell:	n/a	chr8:48172203-48172216
2	CTCF	chr8:48172280-48172430	HCM	heart:	n/a	n/a
3	TBL1XR1	chr8:48172034-48172424	K562	blood:	n/a	n/a
4	RAD21	chr8:48172038-48172407	H1-hESC	embryonic stem cell:	n/a	chr8:48172203-48172216
5	RAD21	chr8:48171973-48172408	H1-hESC	embryonic stem cell:	n/a	chr8:48172203-48172216

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48172372-48172422	SAEC	small airway:	n/a
2	chr8:48172372-48172422	ECC-1	luminal epithelium:	n/a
3	chr8:48172372-48172422	ovcar-3	ovarian:	n/a
4	chr8:48172372-48172422	HepG2	liver:	n/a
5	chr8:48172372-48172422	ProgFib	skin:	n/a
6	chr8:48172372-48172422	PANC-1	pancreas:	n/a
7	chr8:48172372-48172422	MCF10A-Er-Src	breast:	n/a
8	chr8:48172372-48172422	K562	blood:	n/a
9	chr8:48172372-48172422	HNPCEpiC	eye:	n/a
10	chr8:48172372-48172422	HRE	kidney:	n/a
11	chr8:48172372-48172422	MCF-7	breast:	n/a
12	chr8:48172372-48172422	GM19239	blood:	n/a
13	chr8:48172372-48172422	PrEC	prostate:	n/a
14	chr8:48172372-48172422	HCF	heart:	n/a
15	chr8:48172372-48172422	AG09319	gingival:	n/a
16	chr8:48172372-48172422	Hela-S3	cervix:	n/a
17	chr8:48172372-48172422	SK-N-MC	brain:	n/a
18	chr8:48172372-48172422	SK-N-SH_RA	brain:	n/a
19	chr8:48172372-48172422	PFSK-1	brain:	n/a
20	chr8:48172372-48172422	HCT-116	colon:	n/a
21	chr8:48172372-48172422	NHDF-neo	bronchial:	n/a
22	chr8:48172372-48172422	HL-60	blood:	n/a
23	chr8:48172372-48172422	HCM	heart:	n/a
24	chr8:48172372-48172422	NT2-D1	testis:	n/a
25	chr8:48172372-48172422	GM12892	blood:	n/a
26	chr8:48172372-48172422	GM06990	blood:	n/a
27	chr8:48172372-48172422	HEK293	kidney:	embryo
28	chr8:48172372-48172422	BJ	skin:	n/a
29	chr8:48172372-48172422	HCPEpiC	choroid plexus:	n/a
30	chr8:48172372-48172422	Jurkat	blood:	n/a
31	chr8:48172372-48172422	HRCEpiC	kidney:	n/a
32	chr8:48172372-48172422	NB4	blood:	n/a
33	chr8:48172372-48172422	AoSMC	blood vessel:	n/a
34	chr8:48172372-48172422	HUVEC	blood vessel:	n/a
35	chr8:48172372-48172422	BE2_C	brain:	n/a
36	chr8:48172372-48172422	U87	brain:	n/a
37	chr8:48172372-48172422	AG10803	skin:	n/a
38	chr8:48172372-48172422	CMK	blood:	n/a
39	chr8:48172372-48172422	AG04450	lung:	fetal
40	chr8:48172372-48172422	HIPEpiC	eye:	n/a
41	chr8:48172372-48172422	Caco-2	colon:	n/a
42	chr8:48172372-48172422	HAEpiC	amniotic membrane:	n/a
43	chr8:48172372-48172422	H1-hESC	embryonic stem cell:	embryo
44	chr8:48172372-48172422	AG04449	skin:	fetal
45	chr8:48172372-48172422	IMR90	lung:	fetal
46	chr8:48172372-48172422	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:48172372-48172422	SKMC	muscle:	n/a
48	chr8:48172372-48172422	LNCaP	prostate:	n/a
49	chr8:48172372-48172422	A549	lung:	n/a
50	chr8:48172372-48172422	Hepatocyte	liver:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48114707..48115409-chr8:48171741..48172515,2	MCF-7	breast:
2	chr8:48105045..48107718-chr8:48171845..48174415,2	MCF-7	breast:
3	chr8:48109425..48112056-chr8:48171977..48173853,2	MCF-7	breast:
4	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:
5	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
6	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:
7	chr8:48171995..48173689-chr8:48187404..48189747,2	MCF-7	breast:
8	chr8:48171500..48174751-chr8:48648690..48652421,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-350F16.2.1-11	chr8:48171254-48173385	NONHSAT126441

No data

Variant related genes	Relation type
SPIDR	TF binding region
SPIDR	CpG island
ENSG00000253817	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000253502	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000248347	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16926260	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2130880	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28749254	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4515550	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4872721	1.00[EUR][1000 genomes]
rs4873390	1.00[EUR][1000 genomes]
rs4873477	1.00[EUR][1000 genomes]
rs7002441	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9785104	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48163600-48172800	Weak transcription	Right Atrium	heart
2	chr8:48168600-48173000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:48169400-48172600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:48169400-48173000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:48169600-48172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:48170200-48172800	Weak transcription	Pancreas	Pancrea
7	chr8:48171800-48172600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:48171800-48172800	Enhancers	K562	blood
9	chr8:48171800-48174200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:48172000-48174400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:48172200-48172600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:48172200-48172600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:48172200-48172800	Enhancers	Right Ventricle	heart
14	chr8:48172200-48174400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:48172400-48172600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:48172400-48172600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:48172400-48172600	Enhancers	Dnd41	blood
18	chr8:48172400-48172800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:48172400-48173000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:48172400-48173000	Enhancers	Fetal Brain Male	brain
21	chr8:48172400-48174000	Active TSS	Liver	Liver
22	chr8:48172400-48174600	Active TSS	H1 Cell Line	embryonic stem cell

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