Variant report

Variant	rs13030414
Chromosome Location	chr2:74255284-74255285
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74245639..74248209-chr2:74254590..74257005,2	K562	blood:
2	chr2:74247761..74249753-chr2:74252824..74255586,3	K562	blood:
3	chr2:74249742..74252123-chr2:74253295..74256040,2	MCF-7	breast:
4	chr2:74245821..74249832-chr2:74253279..74256984,4	MCF-7	breast:
5	chr2:74211459..74213612-chr2:74254624..74256605,2	MCF-7	breast:
6	chr2:74255095..74256663-chr2:74259404..74261746,2	K562	blood:
7	chr2:74254651..74256596-chr2:74261749..74264116,3	K562	blood:
8	chr2:74210385..74212800-chr2:74251799..74257002,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10164943	0.85[EUR][1000 genomes]
rs10168249	0.89[EUR][1000 genomes]
rs10168408	0.89[EUR][1000 genomes]
rs10168410	0.86[EUR][1000 genomes]
rs10179967	0.85[EUR][1000 genomes]
rs10191539	0.86[EUR][1000 genomes]
rs10200470	0.86[EUR][1000 genomes]
rs11126424	0.89[EUR][1000 genomes]
rs11884748	0.89[EUR][1000 genomes]
rs11885172	0.93[EUR][1000 genomes]
rs11886928	0.93[EUR][1000 genomes]
rs11898903	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12328927	0.93[EUR][1000 genomes]
rs12713803	0.86[EUR][1000 genomes]
rs12713804	0.85[EUR][1000 genomes]
rs12713805	0.88[EUR][1000 genomes]
rs12713806	0.93[EUR][1000 genomes]
rs12713808	0.86[EUR][1000 genomes]
rs12713809	0.85[EUR][1000 genomes]
rs12713810	0.82[EUR][1000 genomes]
rs12988533	0.87[EUR][1000 genomes]
rs12995468	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13005103	0.92[EUR][1000 genomes]
rs13006301	0.87[EUR][1000 genomes]
rs13006407	0.89[EUR][1000 genomes]
rs13011961	0.92[EUR][1000 genomes]
rs13013211	0.90[EUR][1000 genomes]
rs13014576	0.86[EUR][1000 genomes]
rs13016198	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13021880	0.86[EUR][1000 genomes]
rs13027288	0.85[EUR][1000 genomes]
rs13027623	0.96[EUR][1000 genomes]
rs13387010	0.86[EUR][1000 genomes]
rs28450901	0.90[EUR][1000 genomes]
rs34136450	0.90[EUR][1000 genomes]
rs34201525	0.89[EUR][1000 genomes]
rs35592918	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35609589	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3902790	0.85[EUR][1000 genomes]
rs4073048	0.85[EUR][1000 genomes]
rs4241260	0.87[EUR][1000 genomes]
rs4270374	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4328662	0.89[EUR][1000 genomes]
rs4331526	0.86[EUR][1000 genomes]
rs4364046	0.93[EUR][1000 genomes]
rs4371381	0.90[EUR][1000 genomes]
rs4374402	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4416242	0.92[EUR][1000 genomes]
rs4422181	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4574138	0.86[EUR][1000 genomes]
rs4621184	0.86[EUR][1000 genomes]
rs4852326	0.89[EUR][1000 genomes]
rs4853003	0.90[EUR][1000 genomes]
rs4853005	0.93[EUR][1000 genomes]
rs4853006	0.91[EUR][1000 genomes]
rs4853007	0.89[EUR][1000 genomes]
rs4853009	0.86[EUR][1000 genomes]
rs60279245	0.83[EUR][1000 genomes]
rs6546884	0.85[EUR][1000 genomes]
rs6546885	0.89[EUR][1000 genomes]
rs6546886	0.89[EUR][1000 genomes]
rs6546887	0.89[EUR][1000 genomes]
rs6706327	0.90[EUR][1000 genomes]
rs6713313	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6714186	0.88[EUR][1000 genomes]
rs6717896	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6741544	0.86[EUR][1000 genomes]
rs6743073	0.88[EUR][1000 genomes]
rs6745236	0.86[EUR][1000 genomes]
rs6745576	0.85[EUR][1000 genomes]
rs6745792	0.86[EUR][1000 genomes]
rs6754218	0.94[EUR][1000 genomes]
rs6755711	0.85[EUR][1000 genomes]
rs6756474	0.88[EUR][1000 genomes]
rs71337722	0.94[EUR][1000 genomes]
rs7560668	0.84[EUR][1000 genomes]
rs7584777	0.85[EUR][1000 genomes]
rs7587991	0.84[EUR][1000 genomes]
rs7589915	0.86[EUR][1000 genomes]
rs7592749	0.84[EUR][1000 genomes]
rs7593050	0.90[EUR][1000 genomes]
rs7597388	0.92[EUR][1000 genomes]
rs7601526	0.89[EUR][1000 genomes]
rs7606491	0.84[EUR][1000 genomes]
rs9309478	0.85[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	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:74237400-74259000	Weak transcription	NHLF	lung
6	chr2:74238600-74258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:74238800-74258200	Weak transcription	Liver	Liver
8	chr2:74238800-74259600	Weak transcription	HMEC	breast
9	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
10	chr2:74248400-74258200	Weak transcription	Esophagus	oesophagus
11	chr2:74248600-74256000	Weak transcription	Psoas Muscle	Psoas
12	chr2:74248600-74257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:74248600-74258200	Weak transcription	Spleen	Spleen
14	chr2:74248600-74259000	Weak transcription	HSMM	muscle
15	chr2:74248800-74256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:74248800-74258400	Weak transcription	Fetal Brain Male	brain
17	chr2:74249000-74256000	Weak transcription	Right Atrium	heart
18	chr2:74249000-74256200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:74249000-74256800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:74250200-74259200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:74251800-74259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:74253400-74259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:74253600-74256800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:74253600-74257800	Weak transcription	Lung	lung
25	chr2:74253600-74259200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:74253800-74258400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:74253800-74259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:74253800-74259200	Weak transcription	Stomach Mucosa	stomach
29	chr2:74254000-74256400	Weak transcription	Right Ventricle	heart
30	chr2:74254200-74255600	Weak transcription	HepG2	liver
31	chr2:74254200-74257800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:74254200-74257800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:74254200-74257800	Weak transcription	Gastric	stomach
34	chr2:74254200-74257800	Weak transcription	Left Ventricle	heart
35	chr2:74254200-74258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:74254200-74259000	Weak transcription	Colonic Mucosa	Colon
37	chr2:74254400-74255400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:74254400-74255600	Enhancers	GM12878-XiMat	blood
39	chr2:74254400-74255800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:74254400-74256000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:74254400-74256000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:74254400-74256000	Weak transcription	Fetal Thymus	thymus
43	chr2:74254400-74256000	Weak transcription	Thymus	Thymus
44	chr2:74254400-74256200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:74254400-74256200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:74254400-74256200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:74254400-74256200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:74254400-74256400	Weak transcription	Primary B cells from cord blood	blood
49	chr2:74254400-74256400	Weak transcription	Brain Substantia Nigra	brain
50	chr2:74254400-74256800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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