Variant report

Variant	rs72762700
Chromosome Location	chr1:226470227-226470228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226464969..226471191-chr1:226471370..226476817,8	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11584966	1.00[ASN][1000 genomes]
rs11584969	1.00[ASN][1000 genomes]
rs11587381	1.00[ASN][1000 genomes]
rs41303309	1.00[ASN][1000 genomes]
rs56138738	1.00[ASN][1000 genomes]
rs72759078	1.00[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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1825303	chr1:226458998-226481551	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:226415800-226495400	Weak transcription	Liver	Liver
5	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
7	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
10	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
19	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
20	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226451800-226474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:226451800-226474000	Weak transcription	HUVEC	blood vessel
23	chr1:226451800-226480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:226452000-226481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
26	chr1:226452400-226471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:226453400-226470600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:226453400-226478200	Weak transcription	Fetal Intestine Large	intestine
30	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:226453600-226473800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
33	chr1:226455200-226470600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:226456000-226472600	Weak transcription	Hela-S3	cervix
35	chr1:226456600-226483800	Weak transcription	Ovary	ovary
36	chr1:226456600-226484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:226456800-226483200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:226457000-226495600	Weak transcription	Fetal Kidney	kidney
40	chr1:226457200-226474200	Weak transcription	Osteobl	bone
41	chr1:226457200-226483600	Weak transcription	GM12878-XiMat	blood
42	chr1:226457200-226495600	Weak transcription	NHDF-Ad	bronchial
43	chr1:226457200-226495600	Weak transcription	NHLF	lung
44	chr1:226457400-226477000	Weak transcription	HepG2	liver
45	chr1:226457400-226483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:226457400-226495800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:226457600-226470600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:226457600-226472800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:226457600-226473200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:226457600-226474600	Weak transcription	HMEC	breast

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