Variant report

Variant	rs59947468
Chromosome Location	chr2:86289436-86289437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86287106..86289491-chr2:86292833..86294887,3	K562	blood:
2	chr2:86270899..86273641-chr2:86288128..86290154,3	MCF-7	breast:
3	chr2:86267588..86269329-chr2:86289160..86291639,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10174095	0.85[AMR][1000 genomes]
rs10176454	0.90[ASN][1000 genomes]
rs10183744	0.90[ASN][1000 genomes]
rs10187547	0.82[ASN][1000 genomes]
rs1019591	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1019592	0.90[ASN][1000 genomes]
rs1025104	0.90[ASN][1000 genomes]
rs1075622	0.90[ASN][1000 genomes]
rs11127012	0.89[ASN][1000 genomes]
rs11679343	0.90[ASN][1000 genomes]
rs11686963	0.90[ASN][1000 genomes]
rs11694973	0.90[ASN][1000 genomes]
rs12053229	0.90[ASN][1000 genomes]
rs12612513	1.00[AMR][1000 genomes]
rs12614260	1.00[AMR][1000 genomes]
rs12617717	0.85[AMR][1000 genomes]
rs12620810	0.85[AMR][1000 genomes]
rs12621992	1.00[AMR][1000 genomes]
rs12624126	1.00[AMR][1000 genomes]
rs12714168	0.90[ASN][1000 genomes]
rs1424517	0.90[ASN][1000 genomes]
rs1559515	0.90[ASN][1000 genomes]
rs1559517	0.90[ASN][1000 genomes]
rs17026854	1.00[AMR][1000 genomes]
rs17027011	0.85[AMR][1000 genomes]
rs17584578	0.85[AMR][1000 genomes]
rs17618001	1.00[AMR][1000 genomes]
rs1834163	0.90[ASN][1000 genomes]
rs1991106	0.92[ASN][1000 genomes]
rs2018547	0.80[ASN][1000 genomes]
rs2018608	0.85[AMR][1000 genomes]
rs2241435	0.85[AMR][1000 genomes]
rs2241436	0.90[ASN][1000 genomes]
rs2241437	1.00[AMR][1000 genomes]
rs2278085	1.00[AMR][1000 genomes]
rs2278086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278087	1.00[AMR][1000 genomes]
rs2278537	0.90[AFR][1000 genomes]
rs2288118	0.92[ASN][1000 genomes]
rs2288119	0.92[ASN][1000 genomes]
rs2288120	0.92[ASN][1000 genomes]
rs2289237	1.00[AMR][1000 genomes]
rs2303339	0.85[AMR][1000 genomes]
rs2303340	0.85[AMR][1000 genomes]
rs2367201	0.90[ASN][1000 genomes]
rs2367202	0.90[ASN][1000 genomes]
rs3088038	0.90[ASN][1000 genomes]
rs311563	0.92[ASN][1000 genomes]
rs311565	0.92[ASN][1000 genomes]
rs311569	0.92[ASN][1000 genomes]
rs311571	0.92[ASN][1000 genomes]
rs311572	0.90[ASN][1000 genomes]
rs311573	0.92[ASN][1000 genomes]
rs311587	0.88[ASN][1000 genomes]
rs34302587	0.82[AFR][1000 genomes]
rs35093541	0.86[AFR][1000 genomes]
rs36051710	0.86[AFR][1000 genomes]
rs3731819	1.00[AMR][1000 genomes]
rs3731820	0.90[ASN][1000 genomes]
rs3770066	0.85[AMR][1000 genomes]
rs3770069	0.90[ASN][1000 genomes]
rs3770081	0.83[AMR][1000 genomes]
rs3770086	0.90[AFR][1000 genomes]
rs3770091	0.90[AFR][1000 genomes]
rs3810827	1.00[AMR][1000 genomes]
rs4618054	0.90[ASN][1000 genomes]
rs4832021	0.92[ASN][1000 genomes]
rs4832022	0.90[ASN][1000 genomes]
rs4832241	0.92[ASN][1000 genomes]
rs4832245	0.90[ASN][1000 genomes]
rs4832246	0.90[ASN][1000 genomes]
rs4832247	0.90[ASN][1000 genomes]
rs4832248	0.90[ASN][1000 genomes]
rs4832249	0.90[ASN][1000 genomes]
rs4832251	0.90[ASN][1000 genomes]
rs56104203	0.85[AMR][1000 genomes]
rs56673339	0.90[AFR][1000 genomes]
rs57083584	1.00[AMR][1000 genomes]
rs57398459	1.00[AMR][1000 genomes]
rs57906735	0.90[AFR][1000 genomes]
rs58403969	0.90[AFR][1000 genomes]
rs60479377	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60649958	1.00[AMR][1000 genomes]
rs60719866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61185790	0.90[AFR][1000 genomes]
rs61620607	0.91[ASN][1000 genomes]
rs6547656	0.90[AFR][1000 genomes]
rs6547657	0.90[AFR][1000 genomes]
rs6704777	0.90[AFR][1000 genomes]
rs6708146	0.90[AFR][1000 genomes]
rs6712535	0.90[AFR][1000 genomes]
rs6712576	0.90[AFR][1000 genomes]
rs6720327	0.92[ASN][1000 genomes]
rs6724025	0.81[ASN][1000 genomes]
rs6724612	0.82[AFR][1000 genomes]
rs6737211	0.90[AFR][1000 genomes]
rs6740228	0.90[ASN][1000 genomes]
rs6741577	0.90[ASN][1000 genomes]
rs6741815	0.90[AFR][1000 genomes]
rs6741832	0.90[AFR][1000 genomes]
rs6750581	0.90[ASN][1000 genomes]
rs6755224	0.90[AFR][1000 genomes]
rs6755246	0.86[AFR][1000 genomes]
rs6759862	0.90[ASN][1000 genomes]
rs725046	0.90[ASN][1000 genomes]
rs7557349	0.90[AFR][1000 genomes]
rs7559420	0.92[ASN][1000 genomes]
rs7562837	0.98[ASN][1000 genomes]
rs7569577	0.90[AFR][1000 genomes]
rs7572206	0.90[AFR][1000 genomes]
rs7582484	0.90[AFR][1000 genomes]
rs7598787	0.90[ASN][1000 genomes]
rs7599656	0.90[AFR][1000 genomes]
rs7606062	0.83[AFR][1000 genomes]
rs7606421	0.90[ASN][1000 genomes]
rs9973880	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:86266800-86289800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:86267200-86290800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:86268800-86291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:86268800-86295000	Strong transcription	Dnd41	blood
13	chr2:86269800-86289800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:86275800-86290000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:86276400-86290000	Weak transcription	Fetal Heart	heart
16	chr2:86276400-86291000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:86276800-86291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:86280200-86293000	Weak transcription	Psoas Muscle	Psoas
19	chr2:86280800-86291200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:86281200-86290800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:86281400-86290800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:86281400-86290800	Weak transcription	Colonic Mucosa	Colon
23	chr2:86281400-86291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:86281400-86292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:86281600-86290800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:86281600-86291200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:86282000-86290800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:86282400-86291000	Weak transcription	Brain Germinal Matrix	brain
29	chr2:86282600-86290800	Weak transcription	Right Ventricle	heart
30	chr2:86282600-86291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:86282600-86299200	Weak transcription	Small Intestine	intestine
32	chr2:86282800-86290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:86282800-86290200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:86282800-86290600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:86282800-86291200	Weak transcription	Lung	lung
36	chr2:86282800-86291800	Weak transcription	Esophagus	oesophagus
37	chr2:86282800-86291800	Weak transcription	Gastric	stomach
38	chr2:86282800-86292000	Weak transcription	Spleen	Spleen
39	chr2:86282800-86295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:86283000-86290400	Weak transcription	Brain Substantia Nigra	brain
41	chr2:86283000-86290800	Strong transcription	GM12878-XiMat	blood
42	chr2:86283800-86291800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:86284000-86292000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:86284200-86291400	Weak transcription	Thymus	Thymus
45	chr2:86285800-86289600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:86285800-86294600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:86285800-86299400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:86286000-86290000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:86286000-86290000	Strong transcription	Fetal Thymus	thymus
50	chr2:86286000-86290800	Strong transcription	Primary hematopoietic stem cells	blood

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