Variant report

Variant	rs34339899
Chromosome Location	chr1:160988146-160988147
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160957625..160960589-chr1:160987961..160989680,2	K562	blood:
2	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
3	chr1:160967150..160969611-chr1:160987527..160989808,2	K562	blood:
4	chr1:160987801..160992609-chr1:161065993..161069595,4	MCF-7	breast:
5	chr1:160986835..160990359-chr1:161086146..161091164,5	K562	blood:
6	chr1:160969730..160971940-chr1:160985751..160989711,3	MCF-7	breast:
7	chr1:160986477..160990791-chr1:161000780..161004789,4	K562	blood:
8	chr1:160986537..160988478-chr1:161014094..161016423,3	MCF-7	breast:
9	chr1:160986487..160988854-chr1:161017153..161018822,2	MCF-7	breast:
10	chr1:160987861..160992104-chr1:161101436..161104060,5	K562	blood:
11	chr1:160986531..160989585-chr1:160990599..160993711,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162755	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000232879	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000158796	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11265544	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588189	0.83[ASN][1000 genomes]
rs12140181	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516838	0.85[ASN][1000 genomes]
rs2774279	0.83[ASN][1000 genomes]
rs35925761	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656974	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4656977	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160983600-160989400	Enhancers	Placenta	Placenta
2	chr1:160984200-160988200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:160984200-160989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:160984200-160989600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:160984200-160989600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:160984200-160989800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:160984400-160988600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:160984400-160989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:160984400-160989400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:160984400-160989400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:160984400-160989400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:160984400-160989400	Weak transcription	Fetal Kidney	kidney
13	chr1:160984400-160989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:160984400-160989600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:160984400-160989800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:160984400-160989800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:160984400-160989800	Weak transcription	Right Ventricle	heart
18	chr1:160984400-160990800	Weak transcription	HSMMtube	muscle
19	chr1:160984400-160991000	Weak transcription	HSMM	muscle
20	chr1:160984600-160988400	Weak transcription	Colonic Mucosa	Colon
21	chr1:160984600-160989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:160985600-160989400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:160986400-160988400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:160986400-160988800	Enhancers	Gastric	stomach
25	chr1:160986400-160989600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:160986400-160989800	Enhancers	Pancreas	Pancrea
27	chr1:160987000-160988200	Enhancers	Liver	Liver
28	chr1:160987000-160988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:160987400-160988200	Enhancers	Hela-S3	cervix
30	chr1:160987400-160988400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:160987400-160988600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:160987400-160988600	Enhancers	HUVEC	blood vessel
33	chr1:160987400-160988800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:160987400-160989000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:160987400-160989000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:160987400-160989400	Enhancers	Stomach Mucosa	stomach
37	chr1:160987600-160988200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:160987600-160988200	Flanking Active TSS	Esophagus	oesophagus
39	chr1:160987600-160988200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr1:160987600-160988200	Enhancers	Small Intestine	intestine
41	chr1:160987600-160988400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:160987600-160988400	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:160987600-160988600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:160987600-160988600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:160987600-160988600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:160987600-160988600	Enhancers	Fetal Muscle Leg	muscle
47	chr1:160987600-160988600	Enhancers	A549	lung
48	chr1:160987600-160988600	Transcr. at gene 5' and 3'	NHEK	skin
49	chr1:160987600-160988800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:160987600-160988800	Enhancers	Right Atrium	heart

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