Variant report

Variant	rs61649485
Chromosome Location	chr1:173738295-173738296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173737933..173739972-chr1:173748335..173750553,2	MCF-7	breast:
2	chr1:173713824..173715572-chr1:173738278..173740994,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16846418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846433	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16846478	0.88[ASN][1000 genomes]
rs16846526	0.84[ASN][1000 genomes]
rs16846546	0.84[ASN][1000 genomes]
rs16846561	0.84[ASN][1000 genomes]
rs2065170	0.84[ASN][1000 genomes]
rs2068871	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2146372	0.84[ASN][1000 genomes]
rs2235095	0.88[ASN][1000 genomes]
rs2759328	0.84[ASN][1000 genomes]
rs3791021	0.88[ASN][1000 genomes]
rs3791022	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57022387	0.84[ASN][1000 genomes]
rs57086124	0.81[EUR][1000 genomes]
rs58977252	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58994962	0.86[ASN][1000 genomes]
rs61262741	0.88[ASN][1000 genomes]
rs6656255	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6696381	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6790	0.88[ASN][1000 genomes]
rs7539322	0.82[EUR][1000 genomes]
rs941988	0.81[ASN][1000 genomes]
rs9970048	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727200-173744000	Weak transcription	NH-A	brain
4	chr1:173727600-173744600	Weak transcription	HSMM	muscle
5	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
6	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
7	chr1:173727800-173743600	Weak transcription	HepG2	liver
8	chr1:173727800-173744000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:173728000-173744400	Weak transcription	NHLF	lung
10	chr1:173728400-173743400	Weak transcription	NHEK	skin
11	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:173728600-173743200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:173728600-173743200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:173728600-173743600	Weak transcription	Brain Substantia Nigra	brain
16	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
17	chr1:173728800-173740400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:173728800-173743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:173728800-173743400	Weak transcription	Gastric	stomach
20	chr1:173728800-173743400	Weak transcription	Lung	lung
21	chr1:173728800-173743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:173728800-173744000	Weak transcription	Aorta	Aorta
23	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
24	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:173728800-173744200	Weak transcription	HMEC	breast
26	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:173728800-173744600	Weak transcription	Osteobl	bone
29	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
30	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
31	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:173729000-173738400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:173729000-173743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:173729000-173743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:173729000-173743400	Weak transcription	Spleen	Spleen
37	chr1:173729000-173743400	Weak transcription	Dnd41	blood
38	chr1:173729000-173744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:173729000-173744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:173729000-173744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:173729000-173744000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:173729000-173744000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:173729000-173744000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
49	chr1:173729200-173744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:173729600-173739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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