Variant report

Variant	rs149631937
Chromosome Location	chr1:224359997-224359998
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	chr1:224359001..224360594-chr1:224368834..224371786,3	K562	blood:

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction

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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv8857	chr1:224359943-224383023	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224345600-224363400	Weak transcription	Ovary	ovary
5	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
6	chr1:224346600-224363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224346600-224363200	Weak transcription	Fetal Stomach	stomach
8	chr1:224346600-224363400	Weak transcription	Right Ventricle	heart
9	chr1:224346600-224363400	Weak transcription	Spleen	Spleen
10	chr1:224357000-224363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:224357200-224363200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:224357200-224363400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224357800-224363200	Weak transcription	HUVEC	blood vessel
14	chr1:224358000-224363200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:224358200-224363400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:224358400-224363400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:224358600-224361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:224358600-224362600	Weak transcription	Fetal Thymus	thymus
19	chr1:224358600-224363000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:224358600-224363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:224358600-224363200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:224358600-224363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:224358600-224363200	Weak transcription	HMEC	breast
24	chr1:224358600-224363400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:224358600-224363400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:224359000-224360600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:224359000-224360800	Weak transcription	NHEK	skin
28	chr1:224359000-224361400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:224359000-224363200	Weak transcription	Placenta	Placenta
30	chr1:224359000-224363400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:224359000-224363400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:224359000-224369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:224359000-224369200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:224359000-224370200	Weak transcription	Small Intestine	intestine
35	chr1:224359200-224363200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:224359200-224363400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:224359200-224363400	Weak transcription	Primary B cells from peripheral blood	blood

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