Variant report

Variant	rs60916630
Chromosome Location	chr1:46074633-46074634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46072965-46074640	GM12878	blood:	n/a	n/a
2	SPI1	chr1:46074510-46074761	GM12878	blood:	n/a	chr1:46074683-46074696
3	POLR2A	chr1:46072960-46074725	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:46074123-46074637	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:46073886-46074828	K562	blood:	n/a	n/a
6	POLR2A	chr1:46074354-46074743	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr1:46074492-46074776	GM12891	blood:	n/a	chr1:46074683-46074696
8	POLR2A	chr1:46073046-46074749	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:46074218-46074725	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:46072620-46076787	H1-hESC	embryonic stem cell:	n/a	n/a
11	SPI1	chr1:46074389-46074928	HL-60	blood:	n/a	chr1:46074683-46074696
12	MAZ	chr1:46074626-46074667	GM12878	blood:	n/a	chr1:46074641-46074650
13	POLR2A	chr1:46074271-46074840	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:46071949-46077053	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:46072602-46074693	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45986916..45989039-chr1:46073191..46077083,3	K562	blood:

Variant related genes	Relation type
NASP	TF binding region
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56695029	0.83[AFR][1000 genomes]
rs57813129	0.83[AFR][1000 genomes]
rs60189617	1.00[AMR][1000 genomes]
rs60199320	1.00[AMR][1000 genomes]
rs60301454	0.83[AFR][1000 genomes]
rs60660559	1.00[AMR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
2	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
3	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:46055200-46090400	Strong transcription	Dnd41	blood
13	chr1:46056000-46079000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:46057400-46081600	Weak transcription	Psoas Muscle	Psoas
15	chr1:46060800-46076200	Weak transcription	Esophagus	oesophagus
16	chr1:46061000-46076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:46061000-46078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:46061600-46075200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:46061600-46075200	Weak transcription	Colonic Mucosa	Colon
20	chr1:46066600-46075000	Weak transcription	Fetal Heart	heart
21	chr1:46066800-46084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:46066800-46086800	Strong transcription	K562	blood
23	chr1:46067000-46086400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr1:46067200-46086600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:46067200-46087400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:46067400-46086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:46067600-46077000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:46067600-46077600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:46067800-46076800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:46068000-46076800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:46068000-46077000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:46068000-46078800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:46068000-46086600	Strong transcription	Placenta	Placenta
34	chr1:46068200-46076600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:46068200-46085000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:46068200-46086600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:46068200-46087000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:46068200-46087400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:46068200-46087400	Strong transcription	Fetal Thymus	thymus
40	chr1:46068800-46076200	Strong transcription	HSMM	muscle
41	chr1:46068800-46078600	Weak transcription	NHLF	lung
42	chr1:46068800-46080800	Weak transcription	NHDF-Ad	bronchial
43	chr1:46069600-46074800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:46069600-46077000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:46069800-46076200	Strong transcription	Osteobl	bone
46	chr1:46070000-46075400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:46070600-46074800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:46070800-46076800	Strong transcription	Liver	Liver
50	chr1:46070800-46080800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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