Variant report

Variant	rs4971028
Chromosome Location	chr1:151252137-151252138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151234999..151238320-chr1:151251915..151256083,5	MCF-7	breast:
2	chr1:151165541..151174157-chr1:151252015..151257857,16	MCF-7	breast:
3	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
4	chr1:151224995..151228208-chr1:151250878..151253006,3	MCF-7	breast:
5	chr1:151245093..151248113-chr1:151249690..151252378,3	MCF-7	breast:
6	chr1:151159807..151164370-chr1:151251735..151254419,4	MCF-7	breast:
7	1:151171193-151178589..1:151246650-151254384	GM12878	blood:
8	chr1:151251153..151253074-chr1:151284129..151286112,2	MCF-7	breast:
9	chr1:151224415..151228832-chr1:151251866..151257138,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159352	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000163159	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10788801	0.81[ASN][1000 genomes]
rs11204798	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11589120	0.80[ASN][1000 genomes]
rs1536617	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1752387	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1780582	0.81[EUR][1000 genomes]
rs2031797	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2769266	0.81[EUR][1000 genomes]
rs2800946	0.81[EUR][1000 genomes]
rs2800949	0.81[EUR][1000 genomes]
rs2800950	0.81[EUR][1000 genomes]
rs2800953	0.80[EUR][1000 genomes]
rs3811406	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4636463	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4971017	0.84[ASN][1000 genomes]
rs4971018	0.84[ASN][1000 genomes]
rs4971029	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6678528	0.80[ASN][1000 genomes]
rs6702612	0.84[ASN][1000 genomes]
rs7545024	0.84[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	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
2	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
3	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:151240400-151253200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:151240400-151253200	Weak transcription	Hela-S3	cervix
9	chr1:151240400-151253400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:151240600-151253200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:151240600-151253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:151240600-151253200	Weak transcription	Right Ventricle	heart
13	chr1:151240600-151253200	Weak transcription	Dnd41	blood
14	chr1:151240600-151253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:151240600-151253400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:151240600-151253400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:151240600-151253400	Weak transcription	Colonic Mucosa	Colon
18	chr1:151240600-151253400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:151240600-151253400	Weak transcription	Esophagus	oesophagus
20	chr1:151240600-151253400	Weak transcription	Fetal Kidney	kidney
21	chr1:151240600-151253400	Weak transcription	Fetal Lung	lung
22	chr1:151240600-151253400	Weak transcription	Pancreas	Pancrea
23	chr1:151240600-151253400	Weak transcription	Psoas Muscle	Psoas
24	chr1:151240600-151253400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:151240600-151253400	Weak transcription	HMEC	breast
26	chr1:151240600-151253400	Weak transcription	NHLF	lung
27	chr1:151240600-151254000	Weak transcription	Aorta	Aorta
28	chr1:151240800-151253400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:151240800-151253400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:151240800-151253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:151240800-151253400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:151240800-151253400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:151240800-151253600	Weak transcription	Small Intestine	intestine
34	chr1:151241600-151253400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:151241600-151253400	Weak transcription	Left Ventricle	heart
36	chr1:151241800-151253200	Weak transcription	Brain Germinal Matrix	brain
37	chr1:151241800-151253400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:151242800-151253400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:151243000-151253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:151243000-151253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:151243200-151253200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:151243200-151253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:151243200-151253200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:151243200-151253200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:151243200-151253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:151243200-151253400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:151243200-151253400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:151243200-151253400	Weak transcription	Fetal Brain Female	brain
49	chr1:151243200-151253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:151243200-151253400	Weak transcription	HSMM	muscle

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