Variant report

Variant	rs2067915
Chromosome Location	chr1:247039972-247039973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10924878	0.86[ASW][hapmap];0.85[MKK][hapmap]
rs11800375	1.00[EUR][1000 genomes]
rs11805816	1.00[EUR][1000 genomes]
rs11806722	1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[EUR][1000 genomes]
rs12061420	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12065654	0.89[AFR][1000 genomes]
rs12088097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	1.00[EUR][1000 genomes]
rs12096743	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12097308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375472	1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6659764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683038	1.00[TSI][hapmap]
rs6686324	1.00[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6694181	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73140244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142235	1.00[AMR][1000 genomes]
rs73142251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144222	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73146640	0.84[AFR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7512439	0.88[AFR][1000 genomes]
rs7516596	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7534805	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7535104	1.00[EUR][1000 genomes]
rs7537256	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7550911	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9729188	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:247003400-247044600	Strong transcription	Dnd41	blood
8	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
11	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:247004200-247044400	Strong transcription	Liver	Liver
17	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
19	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
21	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
24	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:247022000-247043000	Strong transcription	A549	lung
26	chr1:247022400-247042800	Weak transcription	Gastric	stomach
27	chr1:247023400-247040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:247024200-247052000	Weak transcription	Pancreas	Pancrea
29	chr1:247025200-247048000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:247025200-247052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:247026600-247040400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:247026800-247041600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:247028600-247040400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:247028600-247040400	Strong transcription	Fetal Lung	lung
35	chr1:247030000-247041200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:247030000-247043000	Strong transcription	Fetal Thymus	thymus
37	chr1:247030000-247043200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:247030600-247042000	Strong transcription	Primary B cells from cord blood	blood
39	chr1:247030600-247042800	Strong transcription	HepG2	liver
40	chr1:247031200-247043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:247031600-247043200	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:247031600-247043200	Strong transcription	Thymus	Thymus
43	chr1:247031600-247043400	Strong transcription	K562	blood
44	chr1:247031600-247071400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:247031800-247040600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:247031800-247042800	Strong transcription	Hela-S3	cervix
47	chr1:247032000-247040400	Strong transcription	NHEK	skin
48	chr1:247032000-247042400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:247032200-247043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:247032400-247040200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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