Variant report

Variant	rs34581934
Chromosome Location	chr19:42912505-42912506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr19:42912057-42912765	HEK293-T-REx	kidney:	n/a	chr19:42912332-42912341
2	KAP1	chr19:42912385-42912853	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42912486-42912536	Jurkat	blood:	n/a
2	chr19:42912486-42912536	HCM	heart:	n/a
3	chr19:42912486-42912536	HIPEpiC	eye:	n/a
4	chr19:42912486-42912536	IMR90	lung:	fetal
5	chr19:42912486-42912536	HL-60	blood:	n/a
6	chr19:42912486-42912536	CMK	blood:	n/a
7	chr19:42912486-42912536	Hepatocyte	liver:	n/a
8	chr19:42912486-42912536	AG04449	skin:	fetal
9	chr19:42912486-42912536	SKMC	muscle:	n/a
10	chr19:42912486-42912536	U87	brain:	n/a
11	chr19:42912486-42912536	NHDF-neo	bronchial:	n/a
12	chr19:42912486-42912536	NHBE	bronchial:	n/a
13	chr19:42912486-42912536	HCT-116	colon:	n/a
14	chr19:42912486-42912536	RPTEC	kidney:	n/a
15	chr19:42912486-42912536	BJ	skin:	n/a
16	chr19:42912486-42912536	HMEC	breast:	n/a
17	chr19:42912486-42912536	HepG2	liver:	n/a
18	chr19:42912486-42912536	NT2-D1	testis:	n/a
19	chr19:42912486-42912536	AG09309	skin:	n/a
20	chr19:42912486-42912536	HCPEpiC	choroid plexus:	n/a
21	chr19:42912486-42912536	HRCEpiC	kidney:	n/a
22	chr19:42912486-42912536	T-47D	breast:	n/a
23	chr19:42912486-42912536	ovcar-3	ovarian:	n/a
24	chr19:42912486-42912536	NB4	blood:	n/a
25	chr19:42912486-42912536	ECC-1	luminal epithelium:	n/a
26	chr19:42912486-42912536	SK-N-SH_RA	brain:	n/a
27	chr19:42912486-42912536	H1-hESC	embryonic stem cell:	embryo
28	chr19:42912486-42912536	AG04450	lung:	fetal
29	chr19:42912486-42912536	HRPEpiC	eye:	n/a
30	chr19:42912486-42912536	K562	blood:	n/a
31	chr19:42912486-42912536	GM12891	blood:	n/a
32	chr19:42912486-42912536	HUVEC	blood vessel:	n/a
33	chr19:42912486-42912536	GM12878	blood:	n/a
34	chr19:42912486-42912536	MCF-7	breast:	n/a
35	chr19:42912486-42912536	AG10803	skin:	n/a
36	chr19:42912486-42912536	HRE	kidney:	n/a
37	chr19:42912486-42912536	AG09319	gingival:	n/a
38	chr19:42912486-42912536	LNCaP	prostate:	n/a
39	chr19:42912486-42912536	GM12892	blood:	n/a
40	chr19:42912486-42912536	NH-A	brain:	n/a
41	chr19:42912486-42912536	PFSK-1	brain:	n/a
42	chr19:42912486-42912536	MCF10A-Er-Src	breast:	n/a
43	chr19:42912486-42912536	GM06990	blood:	n/a
44	chr19:42912486-42912536	ProgFib	skin:	n/a
45	chr19:42912486-42912536	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:42912486-42912536	PANC-1	pancreas:	n/a
47	chr19:42912486-42912536	PrEC	prostate:	n/a
48	chr19:42912486-42912536	HEK293	kidney:	embryo
49	chr19:42912486-42912536	Hela-S3	cervix:	n/a
50	chr19:42912486-42912536	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:42756817..42759213-chr19:42911036..42912786,2	MCF-7	breast:
2	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
3	chr19:42838444..42841386-chr19:42911840..42914097,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42912410-42912594	ENSG00000213904.4
2	lnc-AC011497.1-2	chr19:42912410-42912604	ENSG00000213904.4

No data

Variant related genes	Relation type
LIPE	TF binding region
LIPE	CpG island
ENSG00000213904	Chromatin interaction
ENSG00000105722	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34274496	1.00[AMR][1000 genomes]
rs35662484	1.00[AFR][1000 genomes]
rs35684151	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
3	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
4	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
5	chr19:42906400-42913600	Weak transcription	HSMM	muscle
6	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:42906400-42916200	Weak transcription	HMEC	breast
8	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
10	chr19:42906600-42913600	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
13	chr19:42906800-42913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
15	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:42906800-42924000	Weak transcription	A549	lung
18	chr19:42906800-42924400	Weak transcription	Osteobl	bone
19	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:42907000-42912800	Strong transcription	Primary T cells from cord blood	blood
21	chr19:42907000-42914000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:42907000-42916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
24	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:42907200-42912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:42907200-42913200	Strong transcription	Spleen	Spleen
27	chr19:42907200-42913600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:42907200-42913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:42907200-42915200	Strong transcription	Fetal Thymus	thymus
30	chr19:42907200-42916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:42907400-42912800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:42907400-42913000	Weak transcription	Pancreas	Pancrea
33	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:42907600-42912600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:42907600-42916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:42907800-42915200	Strong transcription	Thymus	Thymus
37	chr19:42908600-42912800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr19:42908800-42912600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:42908800-42912600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:42908800-42912800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:42908800-42913200	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:42908800-42915800	Strong transcription	Fetal Brain Female	brain
43	chr19:42908800-42916000	Strong transcription	Fetal Intestine Large	intestine
44	chr19:42909000-42912800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:42909000-42925800	Weak transcription	Dnd41	blood
46	chr19:42909200-42912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:42909400-42912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:42909400-42912800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:42909400-42915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:42909400-42915200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose

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