Variant report

Variant	rs73075782
Chromosome Location	chr1:213035853-213035854
allele	C/G
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	chr1:213035763-213036349	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:213035670-213036019	K562	blood:	n/a	n/a
3	SETDB1	chr1:213035686-213035969	U2OS	brain:	n/a	n/a
4	E2F4	chr1:213035624-213035969	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:213035579-213036132	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
2	chr1:213034209..213036356-chr1:213045546..213047572,3	K562	blood:
3	chr1:212963844..212966660-chr1:213033976..213036564,3	K562	blood:

Variant related genes	Relation type
FLVCR1	TF binding region
FLVCR1-AS1	TF binding region
ENSG00000117697	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs41296720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300031	1.00[AFR][1000 genomes]
rs41307644	0.87[AFR][1000 genomes]
rs56697362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57219112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57638446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58103452	0.93[AFR][1000 genomes]
rs58411510	0.93[AFR][1000 genomes]
rs58860298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59645180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61531628	0.93[AFR][1000 genomes]
rs73075730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079880	0.82[AFR][1000 genomes]
rs73079886	0.82[AFR][1000 genomes]
rs73079887	0.82[AFR][1000 genomes]
rs73079900	0.93[AFR][1000 genomes]
rs73079978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081820	0.93[AFR][1000 genomes]
rs73081821	0.93[AFR][1000 genomes]
rs73081838	0.93[AFR][1000 genomes]
rs73081848	0.93[AFR][1000 genomes]
rs73081859	0.93[AFR][1000 genomes]
rs73081865	0.93[AFR][1000 genomes]
rs73081874	0.93[AFR][1000 genomes]
rs73081896	0.93[AFR][1000 genomes]
rs73083716	0.93[AFR][1000 genomes]
rs73083720	0.93[AFR][1000 genomes]
rs73083723	0.93[AFR][1000 genomes]
rs73083787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]
rs73086317	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:213032600-213037000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:213032600-213046400	Weak transcription	Ovary	ovary
3	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
4	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
5	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
6	chr1:213032800-213036200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:213032800-213036400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:213032800-213056800	Weak transcription	Fetal Thymus	thymus
11	chr1:213032800-213057800	Weak transcription	Placenta	Placenta
12	chr1:213032800-213061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:213032800-213062000	Weak transcription	Psoas Muscle	Psoas
14	chr1:213033400-213038200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr1:213033400-213046800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:213033400-213046800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:213033600-213037000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:213033600-213046800	Weak transcription	Liver	Liver
19	chr1:213033600-213048600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:213033600-213062000	Weak transcription	Thymus	Thymus
21	chr1:213033800-213036000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr1:213033800-213037600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
23	chr1:213034000-213037400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:213034000-213037400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:213034200-213037000	Weak transcription	Primary T cells from cord blood	blood
26	chr1:213034400-213037200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:213034400-213037200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:213034400-213041200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:213034400-213044800	Weak transcription	HSMMtube	muscle
30	chr1:213034400-213046200	Weak transcription	Fetal Lung	lung
31	chr1:213034400-213046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:213034400-213046600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:213034400-213048200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:213034400-213048400	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:213034400-213058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:213034400-213068000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:213034600-213036000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:213034600-213036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:213034600-213036200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:213034600-213036200	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:213034600-213036400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:213034600-213037000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:213034600-213037000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:213034600-213037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:213034600-213037200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:213034600-213037200	Weak transcription	Osteobl	bone
47	chr1:213034600-213037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:213034600-213037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:213034600-213037400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:213034600-213037400	Weak transcription	Duodenum Mucosa	Duodenum

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