Variant report

Variant	rs12086598
Chromosome Location	chr1:9984558-9984559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9983752..9986427-chr1:10003479..10005012,2	K562	blood:
2	chr1:9982335..9985252-chr1:10003262..10005012,2	K562	blood:

Variant related genes	Relation type
ENSG00000162441	Chromatin interaction
ENSG00000173614	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11121501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121509	0.93[AMR][1000 genomes]
rs12058979	0.98[AMR][1000 genomes]
rs12059092	0.98[AMR][1000 genomes]
rs12060375	0.89[AMR][1000 genomes]
rs12062953	0.95[AMR][1000 genomes]
rs12064822	0.98[AMR][1000 genomes]
rs12065908	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12070725	0.98[AMR][1000 genomes]
rs12071307	0.98[AMR][1000 genomes]
rs12082318	0.93[AMR][1000 genomes]
rs12088598	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12094254	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12097182	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034440	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2289478	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2297843	0.95[AMR][1000 genomes]
rs4845912	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4846104	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4846108	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57702810	0.87[ASN][1000 genomes]
rs60132751	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61743470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663059	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6664208	0.89[AMR][1000 genomes]
rs7516611	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7535945	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1005461	chr1:9972921-10038862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv534855	chr1:9972921-10038862	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971400-9987400	Weak transcription	Fetal Stomach	stomach
2	chr1:9971400-9993600	Weak transcription	Aorta	Aorta
3	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
4	chr1:9971600-9988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:9971600-9991200	Weak transcription	NHEK	skin
6	chr1:9971800-9985600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:9971800-9986600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:9971800-9987000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:9971800-9987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:9971800-9989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:9971800-9991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:9972600-9988000	Weak transcription	Lung	lung
13	chr1:9972600-9988600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
15	chr1:9972800-9989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:9973000-9988400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:9975200-10002600	Weak transcription	Stomach Mucosa	stomach
18	chr1:9977000-9991800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:9978200-9990200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:9978600-9984800	Weak transcription	HepG2	liver
21	chr1:9980200-9988400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:9980400-9990200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:9980800-9988600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:9981000-9989400	Weak transcription	Left Ventricle	heart
25	chr1:9982000-9986600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:9982000-9987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:9982000-9987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:9982000-9987800	Weak transcription	Liver	Liver
29	chr1:9982400-9988400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:9982800-9987400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:9982800-9988200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:9982800-9988600	Weak transcription	K562	blood
33	chr1:9982800-9989600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:9983000-9985000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:9983000-9986400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:9983000-9989000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:9983200-9985600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:9983200-9986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:9983200-9986400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:9983200-9986400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:9983200-9986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:9983200-9987000	Weak transcription	Fetal Brain Female	brain
43	chr1:9983200-9988400	Weak transcription	Ovary	ovary
44	chr1:9983200-9988600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:9983200-9989200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:9983200-10002200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:9983200-10002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:9983400-9986400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:9983400-9986400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:9983400-9986600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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