Variant report

Variant	rs74138139
Chromosome Location	chr1:212579948-212579949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212577333..212581219-chr1:212586593..212589230,4	MCF-7	breast:
2	chr1:212577272..212579979-chr1:212586236..212589542,6	K562	blood:
3	chr1:212577419..212579979-chr1:212586021..212589542,6	K562	blood:
4	chr1:212578826..212581261-chr1:212604877..212607699,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction
ENSG00000117691	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10157725	1.00[AMR][1000 genomes]
rs10465692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571523	1.00[AMR][1000 genomes]
rs11571525	1.00[AMR][1000 genomes]
rs11571531	1.00[AMR][1000 genomes]
rs13375351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1663629	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1774254	1.00[AMR][1000 genomes]
rs2921126	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3121292	1.00[AMR][1000 genomes]
rs351389	1.00[AMR][1000 genomes]
rs351411	1.00[AMR][1000 genomes]
rs351412	1.00[AMR][1000 genomes]
rs351415	1.00[AMR][1000 genomes]
rs56056407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56087556	1.00[AMR][1000 genomes]
rs56160775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56909493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57517430	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193366	1.00[AMR][1000 genomes]
rs58843897	1.00[AMR][1000 genomes]
rs59354031	1.00[AMR][1000 genomes]
rs60404556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61460239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61682449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs701909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138106	1.00[AMR][1000 genomes]
rs74138118	1.00[AMR][1000 genomes]
rs74138120	1.00[AMR][1000 genomes]
rs74138121	1.00[AMR][1000 genomes]
rs74138123	1.00[AMR][1000 genomes]
rs74138132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140412	1.00[AMR][1000 genomes]
rs792432	1.00[AMR][1000 genomes]
rs811040	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	esv1828436	chr1:212577765-212591863	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
2	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
3	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
4	chr1:212558600-212580000	Weak transcription	Left Ventricle	heart
5	chr1:212560400-212580200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:212560600-212580200	Weak transcription	HSMMtube	muscle
7	chr1:212560600-212582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:212560600-212582000	Weak transcription	Gastric	stomach
9	chr1:212561000-212580000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:212561000-212582400	Weak transcription	Aorta	Aorta
11	chr1:212569600-212582600	Weak transcription	Ovary	ovary
12	chr1:212570600-212582000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:212570800-212580000	Weak transcription	Fetal Lung	lung
14	chr1:212571000-212586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:212571200-212580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:212571400-212580000	Weak transcription	NH-A	brain
17	chr1:212572600-212582000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:212572600-212585000	Strong transcription	Dnd41	blood
19	chr1:212572800-212585600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:212573200-212580000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:212573400-212580400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:212573400-212582200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:212573800-212580000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:212574200-212580000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:212574400-212582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:212575200-212583600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:212575200-212584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:212575200-212585800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:212575400-212580400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:212575400-212580400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:212575400-212582600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:212575400-212584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:212575400-212585000	Strong transcription	Thymus	Thymus
34	chr1:212575600-212582200	Weak transcription	Right Ventricle	heart
35	chr1:212575600-212585200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:212575800-212580400	Weak transcription	HSMM	muscle
37	chr1:212575800-212580600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:212576000-212584200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:212576000-212585200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr1:212576200-212580400	Weak transcription	NHDF-Ad	bronchial
41	chr1:212576200-212582600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:212576200-212582600	Weak transcription	NHLF	lung
43	chr1:212576200-212585200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:212576200-212585200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:212576400-212582000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:212576600-212580400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:212576600-212582400	Weak transcription	Liver	Liver
48	chr1:212576600-212584000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:212576600-212585000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:212576800-212580000	Weak transcription	Lung	lung

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