Variant report

Variant	rs4416242
Chromosome Location	chr2:74259894-74259895
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74257577..74259961-chr2:74268016..74269691,2	K562	blood:
2	chr2:74255973..74258035-chr2:74259195..74261079,2	MCF-7	breast:
3	chr2:74255095..74256663-chr2:74259404..74261746,2	K562	blood:
4	chr2:74208596..74210196-chr2:74258606..74261196,2	K562	blood:
5	chr2:74256729..74258629-chr2:74258988..74261900,2	K562	blood:
6	chr2:74258345..74260376-chr2:74295043..74298483,3	K562	blood:
7	chr2:74257577..74261263-chr2:74266569..74269691,3	K562	blood:
8	chr2:74235585..74237429-chr2:74259256..74261336,2	K562	blood:
9	chr2:74241720..74243362-chr2:74258400..74261040,2	K562	blood:

No data

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10164943	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168249	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168408	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168410	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10179742	0.84[ASN][1000 genomes]
rs10179967	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184542	0.84[ASN][1000 genomes]
rs10191539	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198884	0.90[ASN][1000 genomes]
rs10200470	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11126424	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11884748	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11885172	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886928	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898903	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12328927	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713803	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713804	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713805	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713806	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713808	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713809	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713810	0.90[CEU][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12988533	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12995468	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13005103	0.89[EUR][1000 genomes]
rs13006301	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006407	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011961	0.89[EUR][1000 genomes]
rs13013211	0.88[EUR][1000 genomes]
rs13014576	0.95[CEU][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13016198	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13021880	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027288	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027623	0.92[EUR][1000 genomes]
rs13030414	0.92[EUR][1000 genomes]
rs13387010	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28450901	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28460865	0.90[ASN][1000 genomes]
rs34136450	0.88[EUR][1000 genomes]
rs34201525	0.86[EUR][1000 genomes]
rs35592918	0.94[EUR][1000 genomes]
rs35609589	0.93[EUR][1000 genomes]
rs3902790	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073048	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241260	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4270374	0.84[EUR][1000 genomes]
rs4328662	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4331526	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4364046	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371381	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374402	0.93[EUR][1000 genomes]
rs4422181	0.85[EUR][1000 genomes]
rs4574138	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4578887	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4621184	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4852326	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853003	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4853005	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853006	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853007	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853009	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60279245	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546884	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546885	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546886	0.95[CEU][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546887	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706327	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713313	0.89[EUR][1000 genomes]
rs6714186	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717896	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs6741544	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743073	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745236	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745576	0.95[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745792	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754218	0.91[EUR][1000 genomes]
rs6755711	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756474	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71337722	0.92[EUR][1000 genomes]
rs7560668	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7568898	0.90[ASN][1000 genomes]
rs7574306	0.82[ASN][1000 genomes]
rs7584777	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587991	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7589915	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592749	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593050	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7595401	0.90[ASN][1000 genomes]
rs7597388	0.89[EUR][1000 genomes]
rs7601526	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606491	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9309478	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[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	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74256000-74260200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:74256000-74269600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:74256200-74266400	Weak transcription	HepG2	liver
6	chr2:74256400-74260200	Enhancers	Brain Substantia Nigra	brain
7	chr2:74257000-74260200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:74257000-74260400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:74257200-74260000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:74257400-74260200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:74257400-74260800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:74257600-74260000	Enhancers	Brain Germinal Matrix	brain
13	chr2:74257600-74260400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:74257800-74260000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:74257800-74260000	Enhancers	Gastric	stomach
16	chr2:74257800-74260000	Enhancers	Left Ventricle	heart
17	chr2:74257800-74260000	Enhancers	Lung	lung
18	chr2:74257800-74260200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:74257800-74260200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:74257800-74260200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:74257800-74260200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:74257800-74260200	Enhancers	Placenta	Placenta
23	chr2:74258000-74260800	Enhancers	Fetal Stomach	stomach
24	chr2:74258200-74260000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:74258200-74260000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:74258200-74260000	Enhancers	Esophagus	oesophagus
27	chr2:74258200-74260000	Flanking Active TSS	Dnd41	blood
28	chr2:74258200-74260200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:74258200-74260400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:74258200-74261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:74258400-74260000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:74258400-74260000	Enhancers	Fetal Brain Male	brain
33	chr2:74258400-74260200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:74258400-74260200	Enhancers	Fetal Heart	heart
35	chr2:74258600-74260000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:74258600-74261600	Enhancers	Fetal Intestine Small	intestine
37	chr2:74258800-74260000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:74258800-74260400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:74259000-74260000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr2:74259000-74260000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:74259000-74260000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:74259000-74260000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:74259000-74260200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:74259000-74260200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:74259000-74260200	Flanking Active TSS	Fetal Thymus	thymus
46	chr2:74259000-74260400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr2:74259000-74260400	Flanking Active TSS	Thymus	Thymus
48	chr2:74259000-74260400	Enhancers	HSMMtube	muscle
49	chr2:74259000-74260800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr2:74259200-74260000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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