Variant report

Variant	rs73114277
Chromosome Location	chr2:234206159-234206160
allele	A/C
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234196980..234199300-chr2:234206108..234208506,2	MCF-7	breast:
2	chr2:234198572..234200432-chr2:234205905..234208256,2	MCF-7	breast:
3	chr2:234205572..234208233-chr2:234208734..234211089,2	K562	blood:
4	chr2:234206031..234207757-chr2:234262903..234264733,2	MCF-7	breast:
5	chr2:234200856..234204903-chr2:234205910..234207803,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP40-3	chr2:234205814-234206210	NONHSAT077469

No data

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000251791	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13386783	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390554	0.83[AMR][1000 genomes]
rs13409759	1.00[AMR][1000 genomes]
rs13427255	0.85[AMR][1000 genomes]
rs57929619	0.85[AMR][1000 genomes]
rs60212745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110050	1.00[AMR][1000 genomes]
rs73112047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973722	0.83[AMR][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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
3	chr2:234180800-234206400	Strong transcription	Thymus	Thymus
4	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:234190600-234206600	Strong transcription	Fetal Stomach	stomach
6	chr2:234193400-234206600	Strong transcription	Primary T cells from cord blood	blood
7	chr2:234194400-234206400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:234194800-234206400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:234196600-234206400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:234197600-234206400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:234197600-234206800	Strong transcription	A549	lung
12	chr2:234198400-234206800	Strong transcription	HSMMtube	muscle
13	chr2:234199200-234210200	Weak transcription	Stomach Mucosa	stomach
14	chr2:234200200-234206600	Weak transcription	Fetal Heart	heart
15	chr2:234201600-234207200	Weak transcription	K562	blood
16	chr2:234202000-234206200	Weak transcription	Fetal Kidney	kidney
17	chr2:234202200-234206200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:234202200-234207400	Weak transcription	Psoas Muscle	Psoas
19	chr2:234203200-234207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:234203200-234209000	Weak transcription	Fetal Brain Male	brain
21	chr2:234203400-234209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
23	chr2:234204000-234207400	Weak transcription	HUVEC	blood vessel
24	chr2:234204000-234211000	Weak transcription	Fetal Lung	lung
25	chr2:234204400-234206600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:234204600-234206200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:234204600-234206600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:234204600-234207600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:234204800-234206400	Weak transcription	Ovary	ovary
30	chr2:234204800-234206600	Weak transcription	NH-A	brain
31	chr2:234204800-234206600	Weak transcription	NHDF-Ad	bronchial
32	chr2:234204800-234207200	Weak transcription	Small Intestine	intestine
33	chr2:234204800-234207800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:234204800-234208800	Weak transcription	Placenta	Placenta
35	chr2:234204800-234209400	Weak transcription	NHLF	lung
36	chr2:234204800-234210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:234205000-234206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:234205000-234206600	Weak transcription	Aorta	Aorta
39	chr2:234205000-234206800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:234205000-234206800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:234205000-234207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:234205000-234207200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:234205000-234207200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:234205000-234207200	Weak transcription	NHEK	skin
45	chr2:234205000-234207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:234205000-234207800	Weak transcription	Primary B cells from cord blood	blood
47	chr2:234205000-234209000	Weak transcription	GM12878-XiMat	blood
48	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
49	chr2:234205200-234206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:234205200-234206600	Weak transcription	Rectal Mucosa Donor 29	rectum

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