Variant report

Variant	rs57272167
Chromosome Location	chr1:9637961-9637962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9637454..9639176-chr1:9647301..9649460,2	MCF-7	breast:
2	chr1:9628204..9631020-chr1:9637855..9640358,2	K562	blood:
3	chr1:9629513..9631020-chr1:9637855..9640503,2	K562	blood:
4	chr1:9349206..9350728-chr1:9637393..9640357,2	MCF-7	breast:
5	chr1:9636153..9639901-chr1:9648602..9651962,4	K562	blood:

Variant related genes	Relation type
ENSG00000188807	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10864429	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022881	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12023288	0.94[EUR][1000 genomes]
rs12037667	0.87[ASN][1000 genomes]
rs12040542	0.87[ASN][1000 genomes]
rs12045459	0.93[EUR][1000 genomes]
rs12045493	0.94[EUR][1000 genomes]
rs12070568	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12084279	0.86[ASN][1000 genomes]
rs28719694	0.96[EUR][1000 genomes]
rs3923984	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073293	0.82[AMR][1000 genomes]
rs4074744	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4423053	0.97[EUR][1000 genomes]
rs4926472	0.82[AMR][1000 genomes]
rs4926482	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55655211	0.87[ASN][1000 genomes]
rs55687246	0.85[ASN][1000 genomes]
rs55780537	0.87[ASN][1000 genomes]
rs55986711	0.87[ASN][1000 genomes]
rs56026893	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56053581	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58478478	0.86[ASN][1000 genomes]
rs60744607	0.86[ASN][1000 genomes]
rs61782983	0.82[EUR][1000 genomes]
rs6540961	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540962	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675436	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698575	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72646709	0.87[ASN][1000 genomes]
rs72646712	0.87[ASN][1000 genomes]
rs72646713	0.87[ASN][1000 genomes]
rs72646715	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72646718	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7411273	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525099	0.86[ASN][1000 genomes]
rs7544083	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9430152	0.98[EUR][1000 genomes]
rs9430153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9430174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9430180	0.83[EUR][1000 genomes]
rs9430181	0.82[ASN][1000 genomes]
rs9430182	0.94[ASN][1000 genomes]
rs9430183	0.81[ASN][1000 genomes]
rs9430184	0.80[ASN][1000 genomes]
rs9430273	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9430274	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv945765	chr1:9633634-9639115	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr1:9616200-9648200	Weak transcription	Esophagus	oesophagus
2	chr1:9616400-9638400	Weak transcription	Pancreas	Pancrea
3	chr1:9617000-9640200	Weak transcription	Placenta	Placenta
4	chr1:9618600-9648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:9619200-9648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:9619200-9648400	Weak transcription	Aorta	Aorta
7	chr1:9619200-9648400	Weak transcription	Right Atrium	heart
8	chr1:9619800-9639400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:9620200-9648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:9620200-9648400	Weak transcription	Psoas Muscle	Psoas
11	chr1:9621600-9648400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:9622000-9638800	Weak transcription	Right Ventricle	heart
13	chr1:9622000-9639400	Weak transcription	A549	lung
14	chr1:9622000-9641000	Weak transcription	NHDF-Ad	bronchial
15	chr1:9622000-9648200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:9622000-9648200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:9622000-9648200	Weak transcription	Fetal Brain Female	brain
18	chr1:9622000-9648200	Weak transcription	Fetal Kidney	kidney
19	chr1:9622000-9648200	Weak transcription	NHLF	lung
20	chr1:9622000-9648400	Weak transcription	Fetal Lung	lung
21	chr1:9622200-9648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:9622200-9648200	Weak transcription	HUVEC	blood vessel
23	chr1:9622200-9648200	Weak transcription	NH-A	brain
24	chr1:9622200-9648800	Weak transcription	Small Intestine	intestine
25	chr1:9622400-9638800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:9622400-9638800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:9623000-9645800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:9624600-9647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:9625200-9648200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:9626400-9638800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:9629000-9639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:9629200-9645000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:9629400-9643800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:9629600-9644400	Strong transcription	Dnd41	blood
35	chr1:9629800-9643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:9630400-9640400	Strong transcription	Primary B cells from cord blood	blood
37	chr1:9630400-9643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:9630600-9648400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:9631000-9642400	Strong transcription	Fetal Stomach	stomach
40	chr1:9631000-9643800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:9631400-9643600	Strong transcription	HepG2	liver
42	chr1:9631600-9643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:9631600-9645200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:9631800-9641200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:9631800-9645400	Strong transcription	Liver	Liver
46	chr1:9632200-9639400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:9633200-9643800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:9633200-9644600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:9633400-9643800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:9633600-9638000	Strong transcription	Rectal Mucosa Donor 29	rectum

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