Variant report

Variant	rs61852486
Chromosome Location	chr1:246913471-246913472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246901571..246903132-chr1:246912422..246914944,2	K562	blood:
2	chr1:246911249..246913997-chr1:246914503..246916490,2	K562	blood:
3	chr1:246886275..246889143-chr1:246911120..246913975,3	MCF-7	breast:
4	chr1:246887255..246889228-chr1:246910662..246914076,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143653	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10924821	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12117138	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12123234	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12124249	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12129922	1.00[AMR][1000 genomes]
rs12136007	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12143299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12144608	1.00[AMR][1000 genomes]
rs12737081	0.88[AFR][1000 genomes]
rs12741733	0.88[AFR][1000 genomes]
rs57538659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61852473	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61852483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61852487	0.82[EUR][1000 genomes]
rs61852488	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61852489	0.82[EUR][1000 genomes]
rs61852490	0.82[EUR][1000 genomes]
rs61852513	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61852517	1.00[AMR][1000 genomes]
rs6665017	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6676751	0.82[EUR][1000 genomes]
rs74154805	1.00[AMR][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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
9	nsv870294	chr1:246877043-246927940	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
4	chr1:246890600-246914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:246892600-246924400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:246894600-246923800	Weak transcription	Pancreas	Pancrea
7	chr1:246895000-246942200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:246895400-246938600	Weak transcription	Fetal Heart	heart
9	chr1:246896400-246917000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:246900000-246917600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:246901200-246924000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:246902800-246923200	Weak transcription	Fetal Brain Male	brain
13	chr1:246902800-246923800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:246903000-246917200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:246904600-246942800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:246905000-246922200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:246905000-246922200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:246905000-246923600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:246905000-246923800	Weak transcription	Thymus	Thymus
21	chr1:246905000-246924000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
23	chr1:246905600-246923400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:246905600-246923800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:246905800-246923800	Weak transcription	Colonic Mucosa	Colon
26	chr1:246905800-246931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:246906000-246923800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:246906200-246917200	Weak transcription	GM12878-XiMat	blood
29	chr1:246906600-246914000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:246906800-246923000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:246906800-246923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:246907000-246923600	Weak transcription	Aorta	Aorta
33	chr1:246907400-246922200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:246908000-246913600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:246908600-246923400	Weak transcription	NH-A	brain
36	chr1:246908600-246923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:246908800-246922200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:246908800-246922600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:246908800-246922600	Weak transcription	NHLF	lung
40	chr1:246908800-246923000	Weak transcription	HUVEC	blood vessel
41	chr1:246908800-246923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:246908800-246923600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:246908800-246923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:246909000-246913600	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:246909000-246916800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:246909000-246918600	Weak transcription	HSMM	muscle
47	chr1:246909000-246922400	Weak transcription	Fetal Kidney	kidney
48	chr1:246909000-246922400	Weak transcription	NHDF-Ad	bronchial
49	chr1:246909000-246922600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:246909000-246922600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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