Variant report

Variant	rs60189617
Chromosome Location	chr1:46079740-46079741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46077692-46080112	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:46077322-46080261	A549	lung:	n/a	n/a
3	POLR2A	chr1:46075118-46080217	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:46077234-46080256	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:46077819-46080258	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:46077534-46080171	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46078287..46079887-chr1:46151185..46152694,2	K562	blood:
2	chr1:46047578..46050794-chr1:46077080..46080053,4	K562	blood:
3	chr1:46078350..46081147-chr1:46095133..46096756,2	K562	blood:
4	chr1:46078095..46080443-chr1:46125224..46127311,2	K562	blood:

No data

Variant related genes	Relation type
NASP	TF binding region
ENSG00000159592	Chromatin interaction
ENSG00000132780	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58969658	1.00[AFR][1000 genomes]
rs60199320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60660559	1.00[AMR][1000 genomes]
rs60916630	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:127 , 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	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:46055200-46090400	Strong transcription	Dnd41	blood
12	chr1:46057400-46081600	Weak transcription	Psoas Muscle	Psoas
13	chr1:46066800-46084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:46066800-46086800	Strong transcription	K562	blood
15	chr1:46067000-46086400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:46067200-46086600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:46067200-46087400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:46067400-46086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:46068000-46086600	Strong transcription	Placenta	Placenta
20	chr1:46068200-46085000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:46068200-46086600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:46068200-46087000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:46068200-46087400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr1:46068200-46087400	Strong transcription	Fetal Thymus	thymus
25	chr1:46068800-46080800	Weak transcription	NHDF-Ad	bronchial
26	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:46070800-46080800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:46071000-46087400	Strong transcription	Fetal Stomach	stomach
29	chr1:46071200-46093000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:46071600-46087200	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:46071600-46105800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:46072000-46084200	Strong transcription	Hela-S3	cervix
33	chr1:46072200-46084400	Strong transcription	Fetal Lung	lung
34	chr1:46074000-46079800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:46074200-46080000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:46074400-46082000	Weak transcription	Fetal Brain Male	brain
37	chr1:46074600-46080600	Weak transcription	Pancreas	Pancrea
38	chr1:46074600-46080600	Weak transcription	Right Ventricle	heart
39	chr1:46074600-46084800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:46074600-46087400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:46074800-46108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:46075200-46086400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:46075400-46087400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:46075600-46080600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:46075600-46088000	Weak transcription	Fetal Heart	heart
46	chr1:46075600-46088000	Strong transcription	Fetal Intestine Small	intestine
47	chr1:46075800-46081000	Weak transcription	Colonic Mucosa	Colon
48	chr1:46075800-46087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:46076200-46094000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:46076400-46080600	Weak transcription	HSMMtube	muscle

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