Variant report

Variant	rs34521657
Chromosome Location	chr19:44122441-44122442
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
2	chr19:44098736..44101941-chr19:44122253..44126181,8	MCF-7	breast:
3	chr19:44122279..44128380-chr19:44171168..44174381,7	K562	blood:
4	chr19:44120391..44122846-chr19:44145838..44147515,2	MCF-7	breast:
5	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
6	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
7	chr19:44111532..44113130-chr19:44121767..44123679,2	MCF-7	breast:
8	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
9	chr19:44036740..44039638-chr19:44122133..44124023,3	MCF-7	breast:
10	chr19:44122405..44124200-chr19:44172139..44174379,2	MCF-7	breast:
11	chr19:44122148..44124570-chr19:44257332..44259810,2	K562	blood:
12	chr19:44098671..44105555-chr19:44121892..44125342,15	MCF-7	breast:
13	chr19:44082516..44084852-chr19:44122314..44123953,3	K562	blood:
14	chr19:44110089..44111972-chr19:44120220..44123168,2	K562	blood:
15	chr19:44121942..44125768-chr19:44258526..44260737,4	K562	blood:
16	chr19:44114067..44118275-chr19:44118353..44122607,6	MCF-7	breast:
17	chr19:44121491..44126230-chr19:44171612..44176113,5	K562	blood:
18	chr19:44082536..44084852-chr19:44121728..44123814,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234465	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000105771	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000011422	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10402946	0.84[AFR][1000 genomes]
rs2240633	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270075	0.93[AFR][1000 genomes]
rs304719	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304720	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304722	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304723	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304726	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34637472	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35346236	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs365063	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803910	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427115	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4803647	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7245651	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8101956	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
2	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
3	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
4	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
5	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:44104800-44123000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:44106000-44122600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:44106200-44122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:44112000-44122600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:44112600-44122600	Weak transcription	HUVEC	blood vessel
13	chr19:44117000-44122600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:44117000-44122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:44117000-44122600	Weak transcription	HSMM	muscle
16	chr19:44117000-44122800	Weak transcription	Colonic Mucosa	Colon
17	chr19:44117200-44122600	Weak transcription	GM12878-XiMat	blood
18	chr19:44117200-44122600	Weak transcription	Hela-S3	cervix
19	chr19:44117200-44122800	Weak transcription	Primary B cells from cord blood	blood
20	chr19:44117200-44122800	Weak transcription	NHEK	skin
21	chr19:44117400-44122600	Weak transcription	Brain Angular Gyrus	brain
22	chr19:44117400-44122600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:44117400-44122600	Weak transcription	HSMMtube	muscle
24	chr19:44117400-44123000	Weak transcription	NHLF	lung
25	chr19:44117600-44122600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:44117600-44122600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:44117600-44122600	Weak transcription	Brain Substantia Nigra	brain
28	chr19:44117800-44122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:44118000-44122600	Weak transcription	NH-A	brain
30	chr19:44118400-44122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:44118400-44122600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:44118400-44122600	Weak transcription	Adipose Nuclei	Adipose
33	chr19:44118400-44122600	Weak transcription	Liver	Liver
34	chr19:44118400-44122600	Weak transcription	Fetal Lung	lung
35	chr19:44118400-44122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:44118400-44122800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:44118400-44122800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:44118400-44122800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:44118400-44123000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:44118600-44122600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:44118600-44122600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:44118600-44122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:44118600-44122600	Weak transcription	Brain Anterior Caudate	brain
44	chr19:44118600-44122600	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:44118600-44122600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:44118600-44122600	Weak transcription	Placenta	Placenta
47	chr19:44118600-44122600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:44118600-44122600	Weak transcription	A549	lung
49	chr19:44118600-44122600	Weak transcription	Osteobl	bone
50	chr19:44118600-44122800	Weak transcription	Primary B cells from peripheral blood	blood

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