Variant report

Variant	rs10857982
Chromosome Location	chr1:113475331-113475332
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	chr1:113448893..113450506-chr1:113473671..113476266,2	K562	blood:
2	chr1:113471338..113475519-chr1:113477635..113481445,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRIG2-7	chr1:113473455-113475939	l_117_chr1:113473454-113476393_brain

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10399593	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1049434	0.93[ASN][1000 genomes]
rs10776763	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857981	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10857983	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102559	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11102562	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102568	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028967	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12037621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12043035	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1344429	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1539625	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1629027	0.88[ASN][1000 genomes]
rs2002402	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2360009	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4301628	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4839273	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57549167	0.88[EUR][1000 genomes]
rs61819971	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61819997	0.88[EUR][1000 genomes]
rs6537764	0.89[ASN][1000 genomes]
rs6537765	0.90[ASN][1000 genomes]
rs6663872	0.90[ASN][1000 genomes]
rs6682142	0.95[EUR][1000 genomes]
rs7169	0.93[ASN][1000 genomes]
rs7551223	0.93[ASN][1000 genomes]
rs7556664	0.93[ASN][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	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113449600-113477200	Weak transcription	Stomach Mucosa	stomach
2	chr1:113451400-113475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:113452800-113476600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:113458000-113490600	Weak transcription	Right Atrium	heart
5	chr1:113458600-113478400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:113460200-113475400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:113460400-113479800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:113460400-113481000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:113460600-113477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:113460600-113478400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:113460800-113480200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:113460800-113480600	Weak transcription	Ovary	ovary
13	chr1:113461000-113477200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:113461200-113478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:113464800-113477800	Weak transcription	NH-A	brain
16	chr1:113466400-113496400	Weak transcription	Primary T cells from cord blood	blood
17	chr1:113466800-113479800	Weak transcription	Fetal Lung	lung
18	chr1:113467000-113477200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:113467000-113478000	Weak transcription	NHLF	lung
20	chr1:113467000-113478400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:113467000-113479600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:113467000-113480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:113467000-113480200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:113467000-113480200	Weak transcription	Thymus	Thymus
25	chr1:113467000-113482000	Weak transcription	Aorta	Aorta
26	chr1:113467000-113482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:113467000-113493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:113467000-113495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:113467000-113497400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:113467200-113496400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:113467400-113477400	Weak transcription	A549	lung
32	chr1:113467800-113475400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:113467800-113477000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:113467800-113477400	Weak transcription	Osteobl	bone
35	chr1:113468000-113496200	Weak transcription	Fetal Brain Female	brain
36	chr1:113468200-113495400	Weak transcription	Psoas Muscle	Psoas
37	chr1:113468400-113478600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:113469400-113478200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:113469800-113480600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:113469800-113495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:113469800-113495600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:113469800-113497000	Weak transcription	Fetal Stomach	stomach
43	chr1:113470800-113480600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:113471000-113478400	Weak transcription	Liver	Liver
45	chr1:113471000-113479600	Weak transcription	Brain Angular Gyrus	brain
46	chr1:113471200-113477200	Weak transcription	Brain Anterior Caudate	brain
47	chr1:113471200-113477200	Weak transcription	NHDF-Ad	bronchial
48	chr1:113471200-113477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:113471200-113478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:113471200-113478400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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