Variant report

Variant	rs1982610
Chromosome Location	chr1:224022073-224022074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223998652..224000420-chr1:224020765..224022326,2	MCF-7	breast:
2	chr1:223913473..223915896-chr1:224022022..224024045,2	K562	blood:
3	chr1:224017359..224022811-chr1:224031085..224036329,9	MCF-7	breast:
4	chr1:224021776..224023617-chr1:224025728..224028035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1003061	0.90[ASN][1000 genomes]
rs1153927	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153929	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153930	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153933	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153936	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153937	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1153938	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1153943	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1153947	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1153949	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1153971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153973	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222120	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222121	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222124	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222128	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222146	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1222156	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1621129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1629850	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16842270	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16842294	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842321	0.97[ASN][1000 genomes]
rs1981171	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242188	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28370163	0.89[EUR][1000 genomes]
rs28370164	0.89[EUR][1000 genomes]
rs28370167	0.89[EUR][1000 genomes]
rs28370172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738370	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767709	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653457	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56329085	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56918361	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59104475	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59196624	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60131749	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60164080	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60739082	0.89[ASN][1000 genomes]
rs6604726	0.89[ASN][1000 genomes]
rs6661816	0.91[ASN][1000 genomes]
rs6675712	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6687003	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6694214	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6694471	0.81[ASN][1000 genomes]
rs72749554	0.90[EUR][1000 genomes]
rs72749569	0.94[EUR][1000 genomes]
rs72749588	0.95[ASN][1000 genomes]
rs737066	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs750873	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7536779	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs898878	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:224007000-224024000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:224009400-224023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:224010200-224026400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:224014200-224023400	Weak transcription	Thymus	Thymus
7	chr1:224014200-224023400	Weak transcription	Dnd41	blood
8	chr1:224014200-224024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:224015200-224023800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:224015400-224023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:224015400-224025000	Weak transcription	Fetal Stomach	stomach
12	chr1:224015800-224024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:224017600-224022600	Weak transcription	Fetal Kidney	kidney
14	chr1:224017600-224026800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:224019000-224026400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:224019400-224022400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:224019400-224022600	Enhancers	Brain Anterior Caudate	brain
18	chr1:224019400-224022600	Enhancers	K562	blood
19	chr1:224019400-224023400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:224019400-224024800	Enhancers	Brain Hippocampus Middle	brain
21	chr1:224019400-224025400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:224019400-224025600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:224019400-224026400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:224019400-224026400	Enhancers	Primary T cells from cord blood	blood
25	chr1:224019400-224027000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:224019600-224024600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:224019600-224024600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:224019600-224027400	Enhancers	Fetal Heart	heart
29	chr1:224019800-224022400	Enhancers	NHDF-Ad	bronchial
30	chr1:224019800-224025400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr1:224019800-224026600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:224020000-224024800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:224020200-224022200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:224020200-224022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:224020200-224026400	Enhancers	HUVEC	blood vessel
36	chr1:224020400-224022400	Enhancers	NHLF	lung
37	chr1:224020400-224022600	Enhancers	Spleen	Spleen
38	chr1:224020400-224023000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:224020400-224023600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:224020400-224025800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:224020600-224022400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:224020600-224022400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:224020600-224022400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:224020600-224022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:224020600-224022600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:224020600-224022600	Weak transcription	GM12878-XiMat	blood
47	chr1:224020600-224023000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:224020600-224023000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:224020600-224023200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:224020600-224023400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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