Variant report

Variant	rs139231847
Chromosome Location	chr1:226824479-226824480
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226824237..226826518-chr1:226852192..226855552,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv992736	chr1:226822940-226827146	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3423866	chr1:226824218-226824503	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
3	chr1:226814600-226824800	Weak transcription	Liver	Liver
4	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
5	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
7	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
8	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:226817200-226825400	Strong transcription	Lung	lung
10	chr1:226817200-226828000	Weak transcription	Fetal Brain Female	brain
11	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
12	chr1:226817800-226828000	Weak transcription	Aorta	Aorta
13	chr1:226818200-226826400	Weak transcription	Pancreas	Pancrea
14	chr1:226818600-226825200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:226819200-226825200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:226819600-226826600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:226819800-226825400	Genic enhancers	Spleen	Spleen
19	chr1:226820000-226824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr1:226820600-226825200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:226820800-226824800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:226820800-226825000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:226820800-226831000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:226821400-226825400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:226821400-226825400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:226821600-226825400	Strong transcription	NHLF	lung
29	chr1:226821800-226824600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:226821800-226825000	Weak transcription	Left Ventricle	heart
31	chr1:226821800-226825200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:226821800-226825400	Genic enhancers	Primary T cells from cord blood	blood
33	chr1:226822000-226824600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:226822000-226824800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:226822000-226825000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr1:226822000-226825200	Weak transcription	Psoas Muscle	Psoas
37	chr1:226822000-226826200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:226822000-226826800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:226822000-226828200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:226822000-226833400	Weak transcription	Fetal Heart	heart
41	chr1:226822200-226825200	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr1:226822200-226825600	Strong transcription	Brain Substantia Nigra	brain
43	chr1:226822400-226825200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:226822400-226825800	Strong transcription	Brain Anterior Caudate	brain
45	chr1:226822600-226824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:226822800-226825000	Weak transcription	Right Ventricle	heart
47	chr1:226822800-226828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:226823000-226825200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:226823000-226827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:226823200-226825200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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