Variant report

Variant	rs34493480
Chromosome Location	chr2:74247121-74247122
allele	A/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	chr2:74211189..74213598-chr2:74245485..74249167,4	MCF-7	breast:
2	chr2:74245821..74249832-chr2:74253279..74256984,4	MCF-7	breast:
3	chr2:74239075..74241270-chr2:74247074..74248631,2	K562	blood:
4	chr2:74211266..74213542-chr2:74246002..74248162,2	MCF-7	breast:
5	chr2:74239770..74244279-chr2:74244536..74249851,6	K562	blood:
6	chr2:74246711..74248294-chr2:74346277..74349272,2	MCF-7	breast:
7	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
8	chr2:74214172..74215724-chr2:74245969..74248555,2	MCF-7	breast:
9	chr2:74245639..74248209-chr2:74254590..74257005,2	K562	blood:
10	chr2:74238286..74241137-chr2:74245038..74247352,3	MCF-7	breast:
11	chr2:74242660..74244625-chr2:74245219..74247706,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13027050	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387174	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13390332	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17009553	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34425704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34555419	0.95[AMR][1000 genomes]
rs35015888	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35120660	0.91[EUR][1000 genomes]
rs6721042	0.80[EUR][1000 genomes]
rs6745776	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71418714	0.90[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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:74231600-74273800	Weak transcription	A549	lung
3	chr2:74233400-74248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:74234800-74247600	Weak transcription	HSMM	muscle
5	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:74236200-74251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:74236400-74251400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:74236800-74247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:74237400-74247600	Weak transcription	HSMMtube	muscle
12	chr2:74237400-74247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:74237400-74252800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:74237400-74259000	Weak transcription	NHLF	lung
15	chr2:74237600-74247400	Weak transcription	Fetal Thymus	thymus
16	chr2:74237600-74247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:74237600-74247800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:74237600-74248400	Weak transcription	Stomach Mucosa	stomach
19	chr2:74237600-74251400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:74237600-74251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:74237600-74252800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:74237800-74247200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:74237800-74247600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:74237800-74247600	Weak transcription	Thymus	Thymus
25	chr2:74237800-74248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:74237800-74248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:74238000-74252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:74238200-74247200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:74238600-74247200	Weak transcription	Primary T cells from cord blood	blood
30	chr2:74238600-74251200	Weak transcription	NHEK	skin
31	chr2:74238600-74258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:74238800-74248000	Weak transcription	Esophagus	oesophagus
33	chr2:74238800-74248400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:74238800-74258200	Weak transcription	Liver	Liver
35	chr2:74238800-74259600	Weak transcription	HMEC	breast
36	chr2:74239000-74251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
38	chr2:74240200-74248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:74242200-74247600	Weak transcription	Lung	lung
40	chr2:74242400-74247600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:74242400-74248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:74244800-74248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:74245000-74247600	Enhancers	GM12878-XiMat	blood
44	chr2:74245000-74251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:74245800-74253400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:74246000-74253400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:74246000-74253400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:74246200-74247200	Enhancers	Fetal Heart	heart
49	chr2:74246200-74247600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:74246200-74247600	Weak transcription	Stomach Smooth Muscle	stomach

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