Variant report

Variant	rs60311832
Chromosome Location	chr19:39345769-39345770
allele	A/G
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	TAL1	chr19:39345750-39345941	K562	blood:	n/a	n/a
2	ZBTB7A	chr19:39345634-39345794	K562	blood:	n/a	n/a
3	NR2F2	chr19:39345412-39346020	K562	blood:	n/a	n/a
4	MAX	chr19:39345634-39345955	K562	blood:	n/a	n/a
5	NR2F2	chr19:39345603-39345987	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39345085..39346911-chr19:39378251..39380544,2	K562	blood:

Variant related genes	Relation type
HNRNPL	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001414	0.85[AMR][1000 genomes]
rs11883010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399999	1.00[EUR][1000 genomes]
rs59849895	1.00[EUR][1000 genomes]
rs73537681	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537683	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73537686	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73930212	1.00[ASN][1000 genomes]

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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911673	chr19:39335274-39365401	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39343600-39348200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:39343600-39359800	Weak transcription	Small Intestine	intestine
3	chr19:39343800-39346800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:39343800-39347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:39343800-39347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:39343800-39347400	Weak transcription	Primary T cells from cord blood	blood
7	chr19:39343800-39347400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:39343800-39347800	Weak transcription	Fetal Thymus	thymus
9	chr19:39343800-39348200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:39343800-39348200	Weak transcription	Esophagus	oesophagus
11	chr19:39343800-39348200	Weak transcription	HSMMtube	muscle
12	chr19:39343800-39352400	Weak transcription	HUVEC	blood vessel
13	chr19:39343800-39353000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:39343800-39353200	Weak transcription	Fetal Kidney	kidney
15	chr19:39344000-39346800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:39344000-39347000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:39344000-39347000	Weak transcription	Spleen	Spleen
18	chr19:39344000-39347200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:39344000-39347200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:39344000-39347200	Weak transcription	GM12878-XiMat	blood
21	chr19:39344000-39347400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:39344000-39347400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:39344000-39347400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:39344000-39347400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:39344000-39347400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:39344000-39347400	Weak transcription	A549	lung
27	chr19:39344000-39347400	Weak transcription	HepG2	liver
28	chr19:39344000-39347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:39344000-39347600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:39344000-39347600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:39344000-39347600	Weak transcription	Adipose Nuclei	Adipose
32	chr19:39344000-39347600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:39344000-39347800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:39344000-39347800	Weak transcription	Osteobl	bone
35	chr19:39344000-39348200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:39344000-39348200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:39344000-39348200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:39344000-39352800	Weak transcription	Lung	lung
39	chr19:39344000-39353000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:39344000-39353000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:39344000-39353200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:39344000-39353200	Weak transcription	Right Atrium	heart
43	chr19:39344200-39346800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:39344200-39346800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:39344200-39347400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:39344200-39347800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr19:39344200-39347800	Weak transcription	Placenta	Placenta
48	chr19:39344200-39348200	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:39344200-39353000	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:39344200-39356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links