Variant report

Variant	rs1192526
Chromosome Location	chr1:92338117-92338118
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92097267..92098889-chr1:92337688..92339607,2	K562	blood:
2	chr1:92336182..92339084-chr1:92349725..92351939,2	K562	blood:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10875041	0.82[ASN][1000 genomes]
rs1192525	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192527	0.99[ASN][1000 genomes]
rs1488692	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1805109	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1805110	0.83[YRI][hapmap]
rs2245653	0.94[ASN][1000 genomes]
rs2245663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2391092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2450927	0.83[AFR][1000 genomes]
rs2479872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2489170	0.83[AFR][1000 genomes]
rs2489171	0.83[AFR][1000 genomes]
rs2489175	0.94[ASN][1000 genomes]
rs2489187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2489189	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2634018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634028	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2634029	0.81[AFR][1000 genomes]
rs2634030	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2799510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2799523	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2799525	0.81[AFR][1000 genomes]
rs2799526	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs2799527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2799542	0.90[ASN][1000 genomes]
rs2996478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4261158	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4658117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6604062	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6604063	0.90[ASN][1000 genomes]
rs6676301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6702560	0.86[ASN][1000 genomes]
rs721052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7527634	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92317400-92344400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:92332400-92342400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:92334000-92338200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:92335200-92343400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:92335400-92339800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:92335800-92338600	Enhancers	Fetal Heart	heart
7	chr1:92335800-92338800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:92335800-92338800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:92335800-92338800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:92335800-92338800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:92335800-92338800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:92335800-92339000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:92336200-92339200	Enhancers	Fetal Thymus	thymus
14	chr1:92336800-92338400	Enhancers	Right Atrium	heart
15	chr1:92336800-92338400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:92336800-92338600	Enhancers	Pancreas	Pancrea
17	chr1:92336800-92338800	Enhancers	Colon Smooth Muscle	Colon
18	chr1:92337000-92338400	Enhancers	Small Intestine	intestine
19	chr1:92337000-92338800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:92337000-92338800	Enhancers	NHDF-Ad	bronchial
21	chr1:92337000-92338800	Enhancers	NHLF	lung
22	chr1:92337000-92339200	Enhancers	Dnd41	blood
23	chr1:92337200-92338200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:92337200-92338400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:92337200-92338400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:92337200-92338400	Enhancers	Colonic Mucosa	Colon
27	chr1:92337200-92338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:92337200-92338600	Enhancers	Fetal Intestine Small	intestine
29	chr1:92337200-92338600	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:92337200-92338600	Enhancers	HUVEC	blood vessel
31	chr1:92337200-92338600	Enhancers	Osteobl	bone
32	chr1:92337200-92338800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:92337400-92338600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:92337400-92338800	Enhancers	Liver	Liver
35	chr1:92337400-92339200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:92337400-92339200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:92337400-92340000	Enhancers	Spleen	Spleen
38	chr1:92337400-92341200	Enhancers	Ovary	ovary
39	chr1:92337600-92338200	Enhancers	Fetal Lung	lung
40	chr1:92337600-92338400	Enhancers	Fetal Kidney	kidney
41	chr1:92337600-92338400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:92337600-92338400	Enhancers	Right Ventricle	heart
43	chr1:92337600-92338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:92337600-92338600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:92337600-92338600	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:92337600-92338600	Enhancers	Psoas Muscle	Psoas
47	chr1:92337600-92338600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:92337600-92338600	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:92337600-92338600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:92337600-92338600	Enhancers	Stomach Mucosa	stomach

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