Variant report

Variant	rs59000970
Chromosome Location	chr1:169269185-169269186
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	chr1:169265989..169270734-chr1:169271559..169276402,6	K562	blood:
2	chr1:169267146..169270567-chr1:169272063..169277859,6	K562	blood:

Variant related genes	Relation type
ENSG00000143156	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60575235	0.90[AFR][1000 genomes]
rs74121609	1.00[AFR][1000 genomes]
rs74121615	1.00[AFR][1000 genomes]
rs74125209	0.84[AFR][1000 genomes]
rs74125214	0.95[AFR][1000 genomes]
rs74125217	0.85[AFR][1000 genomes]
rs74125220	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1000254	chr1:169203554-169271792	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1009170	chr1:169207940-169270995	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1004674	chr1:169233962-169271792	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169251400-169271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:169252800-169278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:169252800-169278800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:169253400-169270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
6	chr1:169254000-169274800	Weak transcription	Ovary	ovary
7	chr1:169254800-169281000	Weak transcription	Dnd41	blood
8	chr1:169256800-169271600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:169256800-169278600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:169258600-169271200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:169258600-169276400	Weak transcription	HSMM	muscle
14	chr1:169258800-169274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:169258800-169277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:169259200-169278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:169259400-169274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:169259400-169278600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:169259600-169278600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
21	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
22	chr1:169260600-169278800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:169262400-169271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:169262800-169274600	Weak transcription	Liver	Liver
25	chr1:169262800-169278600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:169263000-169278600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:169264000-169281400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:169264200-169269800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:169264200-169278600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:169264400-169271600	Weak transcription	Psoas Muscle	Psoas
31	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
32	chr1:169265000-169278600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
34	chr1:169265200-169272800	Weak transcription	HepG2	liver
35	chr1:169265200-169277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:169265200-169278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:169265200-169281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:169265400-169281200	Weak transcription	NHDF-Ad	bronchial
39	chr1:169265800-169281000	Weak transcription	Fetal Intestine Large	intestine
40	chr1:169266200-169278600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:169266200-169280200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:169266600-169269400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:169266800-169269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:169267000-169278400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:169267000-169281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:169267800-169269400	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:169267800-169271400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:169267800-169281200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:169268000-169278600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:169268200-169269400	Enhancers	HUVEC	blood vessel

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