Variant report

Variant	rs561626263
Chromosome Location	chr1:226459056-226459057
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226458655..226460444-chr1:226472837..226474997,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
2	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:226415800-226495400	Weak transcription	Liver	Liver
6	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
8	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
11	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:226448200-226459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:226448200-226461600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:226448200-226467200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:226448400-226459800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:226449000-226460400	Weak transcription	Pancreas	Pancrea
19	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:226450000-226465600	Strong transcription	Dnd41	blood
22	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:226450600-226463400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
28	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:226451800-226460400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226451800-226474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:226451800-226474000	Weak transcription	HUVEC	blood vessel
32	chr1:226451800-226480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:226452000-226481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
35	chr1:226452400-226471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:226452600-226459800	Weak transcription	Left Ventricle	heart
37	chr1:226452600-226466600	Weak transcription	Fetal Stomach	stomach
38	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:226453400-226464400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:226453400-226470600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:226453400-226478200	Weak transcription	Fetal Intestine Large	intestine
42	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:226453600-226473800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:226454000-226462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:226454200-226469600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
47	chr1:226455200-226459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:226455200-226470600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:226455800-226462800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:226456000-226472600	Weak transcription	Hela-S3	cervix

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