Variant report

Variant	rs61781110
Chromosome Location	chr1:92279917-92279918
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92274050..92276390-chr1:92277677..92279989,2	K562	blood:
2	chr1:92259196..92261708-chr1:92278967..92281416,2	K562	blood:
3	chr1:92274046..92275550-chr1:92277677..92280459,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17514919	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17574203	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17883307	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004068	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4658116	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781093	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61781094	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92264800-92284200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:92272200-92282600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:92272400-92285400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:92273400-92281000	Weak transcription	Aorta	Aorta
5	chr1:92273400-92281000	Weak transcription	Fetal Kidney	kidney
6	chr1:92273400-92281000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:92275200-92284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:92275400-92283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:92275600-92281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:92275600-92283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:92275600-92292000	Weak transcription	Lung	lung
12	chr1:92275800-92281400	Weak transcription	Fetal Stomach	stomach
13	chr1:92276000-92284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:92276400-92281400	Weak transcription	NHDF-Ad	bronchial
15	chr1:92276400-92285000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:92277000-92280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:92277400-92291800	Enhancers	HepG2	liver
18	chr1:92277600-92281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:92277800-92281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:92277800-92282600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:92277800-92283000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:92277800-92283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:92277800-92283200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:92277800-92286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:92278000-92280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:92278000-92281200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:92278000-92282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:92278000-92283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:92278000-92285200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:92278400-92280000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:92278800-92281600	Enhancers	HUVEC	blood vessel
32	chr1:92278800-92288200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:92279200-92280000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:92279200-92280000	Enhancers	Ovary	ovary
35	chr1:92279200-92280000	Enhancers	Pancreas	Pancrea
36	chr1:92279200-92280400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:92279200-92282000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:92279400-92280400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:92279400-92283000	Weak transcription	Fetal Thymus	thymus
40	chr1:92279600-92280000	Enhancers	Fetal Heart	heart
41	chr1:92279600-92280000	Enhancers	Fetal Lung	lung
42	chr1:92279600-92281000	Weak transcription	Psoas Muscle	Psoas
43	chr1:92279600-92281400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:92279600-92282000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:92279600-92283000	Weak transcription	Placenta	Placenta
46	chr1:92279600-92284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:92279600-92284600	Weak transcription	Left Ventricle	heart
48	chr1:92279600-92285000	Weak transcription	Esophagus	oesophagus
49	chr1:92279600-92285000	Weak transcription	Right Ventricle	heart
50	chr1:92279600-92287000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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