Variant report

Variant	rs58969658
Chromosome Location	chr1:46060663-46060664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46059926..46061597-chr1:46150774..46152675,2	K562	blood:
2	chr1:45986574..45989009-chr1:46060184..46062872,2	K562	blood:
3	chr1:46049642..46052489-chr1:46060618..46063173,2	MCF-7	breast:
4	chr1:45984460..45986056-chr1:46058706..46061606,2	K562	blood:
5	chr1:46059543..46063756-chr1:46065868..46068910,6	K562	blood:
6	chr1:46058928..46062308-chr1:46076785..46078663,3	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60189617	1.00[AFR][1000 genomes]
rs60199320	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
3	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
4	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46051400-46069800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
3	chr1:46052200-46063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
5	chr1:46052400-46060800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:46052800-46065200	Strong transcription	Fetal Thymus	thymus
8	chr1:46052800-46066600	Weak transcription	NHDF-Ad	bronchial
9	chr1:46052800-46066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:46052800-46067800	Weak transcription	NHLF	lung
11	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:46053000-46061000	Strong transcription	Fetal Intestine Small	intestine
17	chr1:46053000-46062400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:46053400-46064400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:46053400-46066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:46055000-46062000	Strong transcription	K562	blood
24	chr1:46055000-46067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:46055200-46063400	Strong transcription	HepG2	liver
27	chr1:46055200-46090400	Strong transcription	Dnd41	blood
28	chr1:46055600-46065800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr1:46055800-46065400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:46055800-46071600	Weak transcription	Left Ventricle	heart
31	chr1:46056000-46061000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:46056000-46065400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:46056000-46079000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:46056200-46071800	Weak transcription	Fetal Brain Male	brain
35	chr1:46056400-46062400	Strong transcription	Primary B cells from cord blood	blood
36	chr1:46056400-46062800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:46056600-46061400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr1:46056600-46062400	Strong transcription	HSMM	muscle
39	chr1:46056600-46064400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:46056600-46065200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:46056600-46066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:46056800-46061000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:46056800-46061800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:46056800-46062000	Strong transcription	Placenta	Placenta
45	chr1:46056800-46062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:46056800-46065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:46056800-46065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:46056800-46073400	Weak transcription	Right Ventricle	heart
49	chr1:46056800-46074000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:46057000-46061000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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