Variant report

Variant	rs1503849
Chromosome Location	chr1:160680764-160680765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74124271	0.86[EUR][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	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv437213	chr1:160652730-160681836	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1503849	CCDC19	cis	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160673000-160681200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:160673400-160681000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:160674200-160681000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:160675200-160680800	Weak transcription	Spleen	Spleen
5	chr1:160676200-160682800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:160676400-160682800	Flanking Active TSS	Dnd41	blood
7	chr1:160676800-160682800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:160677400-160681600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:160677800-160681200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:160678400-160681000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:160678400-160682200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:160679000-160692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:160679200-160682000	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:160679400-160681600	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr1:160679400-160681800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:160679400-160683200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:160679600-160681800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:160679600-160682200	Active TSS	Duodenum Mucosa	Duodenum
19	chr1:160679600-160683200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:160679800-160681800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:160679800-160682200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:160680000-160680800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:160680000-160681800	Active TSS	Primary B cells from peripheral blood	blood
24	chr1:160680000-160681800	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:160680000-160681800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:160680000-160682000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:160680200-160681400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:160680200-160682000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr1:160680200-160683000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:160680400-160680800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr1:160680400-160681000	Flanking Active TSS	Thymus	Thymus
32	chr1:160680400-160681400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:160680400-160681600	Active TSS	Adipose Nuclei	Adipose
34	chr1:160680400-160681600	Active TSS	Esophagus	oesophagus
35	chr1:160680400-160681600	Active TSS	Fetal Muscle Leg	muscle
36	chr1:160680400-160681800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:160680400-160681800	Active TSS	GM12878-XiMat	blood
38	chr1:160680600-160680800	Active TSS	Fetal Thymus	thymus
39	chr1:160680600-160681600	Active TSS	Liver	Liver
40	chr1:160680600-160681600	Active TSS	Colonic Mucosa	Colon
41	chr1:160680600-160681600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:160680600-160681600	Active TSS	Small Intestine	intestine
43	chr1:160680600-160681800	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:160680600-160682000	Active TSS	Primary T cells from cord blood	blood

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