Variant report

Variant	rs17829167
Chromosome Location	chr8:1619911-1619912
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1619861-1619911	NB4	blood:	n/a
2	chr8:1619861-1619911	NH-A	brain:	n/a
3	chr8:1619861-1619911	SAEC	small airway:	n/a
4	chr8:1619861-1619911	IMR90	lung:	fetal
5	chr8:1619861-1619911	Hela-S3	cervix:	n/a
6	chr8:1619861-1619911	HCM	heart:	n/a
7	chr8:1619861-1619911	Hepatocyte	liver:	n/a
8	chr8:1619861-1619911	SK-N-SH	brain:	n/a
9	chr8:1619861-1619911	SK-N-MC	brain:	n/a
10	chr8:1619861-1619911	PFSK-1	brain:	n/a
11	chr8:1619861-1619911	HUVEC	blood vessel:	n/a
12	chr8:1619861-1619911	HCF	heart:	n/a
13	chr8:1619861-1619911	A549	lung:	n/a
14	chr8:1619861-1619911	HCT-116	colon:	n/a
15	chr8:1619861-1619911	HEK293	kidney:	embryo
16	chr8:1619861-1619911	CMK	blood:	n/a
17	chr8:1619861-1619911	HRE	kidney:	n/a
18	chr8:1619861-1619911	RPTEC	kidney:	n/a
19	chr8:1619861-1619911	HEEpiC	esophagus:	n/a
20	chr8:1619861-1619911	MCF-7	breast:	n/a
21	chr8:1619861-1619911	MCF10A-Er-Src	breast:	n/a
22	chr8:1619861-1619911	U87	brain:	n/a
23	chr8:1619861-1619911	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:1619861-1619911	BJ	skin:	n/a
25	chr8:1619861-1619911	GM12891	blood:	n/a
26	chr8:1619861-1619911	T-47D	breast:	n/a
27	chr8:1619861-1619911	LNCaP	prostate:	n/a
28	chr8:1619861-1619911	GM19239	blood:	n/a
29	chr8:1619861-1619911	AG09309	skin:	n/a
30	chr8:1619861-1619911	BE2_C	brain:	n/a
31	chr8:1619861-1619911	AG04449	skin:	fetal
32	chr8:1619861-1619911	HCPEpiC	choroid plexus:	n/a
33	chr8:1619861-1619911	K562	blood:	n/a
34	chr8:1619861-1619911	HRPEpiC	eye:	n/a
35	chr8:1619861-1619911	AG04450	lung:	fetal
36	chr8:1619861-1619911	HNPCEpiC	eye:	n/a
37	chr8:1619861-1619911	NHDF-neo	bronchial:	n/a
38	chr8:1619861-1619911	GM12892	blood:	n/a
39	chr8:1619861-1619911	AG09319	gingival:	n/a
40	chr8:1619861-1619911	PANC-1	pancreas:	n/a
41	chr8:1619861-1619911	PrEC	prostate:	n/a
42	chr8:1619861-1619911	Jurkat	blood:	n/a
43	chr8:1619861-1619911	H1-hESC	embryonic stem cell:	embryo
44	chr8:1619861-1619911	HIPEpiC	eye:	n/a
45	chr8:1619861-1619911	GM12878	blood:	n/a
46	chr8:1619861-1619911	NHBE	bronchial:	n/a
47	chr8:1619861-1619911	HMEC	breast:	n/a
48	chr8:1619861-1619911	HL-60	blood:	n/a
49	chr8:1619861-1619911	AoSMC	blood vessel:	n/a
50	chr8:1619861-1619911	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
DLGAP2	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11136419	0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12056406	0.82[EUR][1000 genomes]
rs2293908	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4471073	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4546686	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4577979	0.91[ASN][1000 genomes]
rs60753815	0.88[ASN][1000 genomes]
rs73547746	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73672916	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73672918	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1034963	chr8:1544425-1681781	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1015597	chr8:1563559-1684995	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539296	chr8:1563559-1684995	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv889705	chr8:1581839-1676147	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv889706	chr8:1581839-1681171	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv889710	chr8:1591412-1676147	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
19	nsv609524	chr8:1594307-1643287	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv889713	chr8:1594307-1659040	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv609525	chr8:1595450-1632525	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv609526	chr8:1595450-1640790	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1611000-1620800	Weak transcription	Right Atrium	heart
2	chr8:1611400-1620800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:1615600-1621000	Weak transcription	Fetal Brain Female	brain
4	chr8:1617400-1620800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:1618000-1620400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:1618800-1620800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:1618800-1620800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:1618800-1620800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:1618800-1620800	Weak transcription	Spleen	Spleen
10	chr8:1618800-1621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:1618800-1621400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:1619000-1620000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:1619000-1620800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:1619000-1620800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:1619000-1621400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:1619200-1620000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1619200-1620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:1619200-1620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:1619200-1620800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:1619400-1620000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:1619400-1620600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:1619400-1620800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:1619400-1620800	Weak transcription	Colonic Mucosa	Colon
24	chr8:1619600-1620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:1619600-1620800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:1619800-1620200	Bivalent/Poised TSS	HepG2	liver
27	chr8:1619800-1620800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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