Variant report

Variant	rs12071529
Chromosome Location	chr1:225635360-225635361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225633322..225636010-chr1:226185928..226188018,2	K562	blood:
2	chr1:225609559..225620018-chr1:225630046..225635440,23	K562	blood:
3	chr1:225633065..225638606-chr1:225639136..225643843,7	MCF-7	breast:
4	chr1:225632782..225636036-chr1:225646050..225649453,3	K562	blood:

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10915831	0.83[EUR][1000 genomes]
rs1222434	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1222439	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1336480	0.84[EUR][1000 genomes]
rs1360958	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1764345	0.86[EUR][1000 genomes]
rs1764347	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1771318	0.86[EUR][1000 genomes]
rs1890999	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2185528	0.83[EUR][1000 genomes]
rs4653638	0.84[EUR][1000 genomes]
rs4653640	0.83[EUR][1000 genomes]
rs481746	0.84[AFR][1000 genomes]
rs499385	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs525062	0.89[AFR][1000 genomes]
rs544430	0.84[AFR][1000 genomes]
rs6426075	0.84[EUR][1000 genomes]
rs72750896	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7545317	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs954534	0.84[AFR][1000 genomes];0.86[EUR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
2	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
3	chr1:225629200-225636400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:225629400-225635600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:225629400-225635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:225630200-225636400	Enhancers	Fetal Intestine Small	intestine
7	chr1:225630800-225636600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:225632200-225635800	Enhancers	Fetal Stomach	stomach
9	chr1:225632200-225637800	Enhancers	Stomach Mucosa	stomach
10	chr1:225632400-225635800	Enhancers	Placenta	Placenta
11	chr1:225632400-225636200	Enhancers	Fetal Lung	lung
12	chr1:225632600-225635400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:225632600-225635400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:225632600-225635800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:225632800-225635400	Enhancers	Brain Substantia Nigra	brain
16	chr1:225632800-225636600	Enhancers	Esophagus	oesophagus
17	chr1:225633000-225636000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:225633000-225636400	Enhancers	Right Atrium	heart
19	chr1:225633000-225640200	Enhancers	Fetal Thymus	thymus
20	chr1:225633200-225635600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:225633200-225635600	Enhancers	Small Intestine	intestine
22	chr1:225633200-225635800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:225633200-225635800	Enhancers	Lung	lung
24	chr1:225633200-225635800	Enhancers	Right Ventricle	heart
25	chr1:225633200-225636000	Enhancers	Fetal Kidney	kidney
26	chr1:225633400-225635400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:225633400-225635600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:225633400-225635600	Enhancers	Gastric	stomach
29	chr1:225633400-225635800	Enhancers	Fetal Heart	heart
30	chr1:225633400-225636200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:225633400-225636600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:225633400-225637800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:225633600-225635400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:225633600-225635400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:225633600-225635400	Enhancers	Adipose Nuclei	Adipose
36	chr1:225633600-225635600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:225633600-225635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:225633600-225637200	Enhancers	Hela-S3	cervix
39	chr1:225633600-225642000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:225633800-225635400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:225633800-225635600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:225633800-225635600	Weak transcription	A549	lung
43	chr1:225633800-225635800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:225633800-225636000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:225633800-225636200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr1:225633800-225637800	Enhancers	Colonic Mucosa	Colon
47	chr1:225633800-225638400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:225634000-225635400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:225634000-225635400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:225634000-225635600	Enhancers	Primary T helper cells PMA-I stimulated	--

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