Variant report

Variant	rs7584055
Chromosome Location	chr2:85831834-85831835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:85831561-85832039	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:85831606-85832119	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:85831618-85832286	K562	blood:	n/a	n/a
4	POLR2A	chr2:85831624-85832055	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:85831450-85832195	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr2:85831739-85832258	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:85831618-85832162	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:85831635-85831855	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr2:85831527-85832039	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:85831657-85831942	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr2:85830911-85832086	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:85831593-85833831	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:85831623-85832418	HCT-116	colon:	n/a	n/a
14	POLR2A	chr2:85831543-85831928	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:85831541-85831982	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr2:85831611-85832002	HCT-116	colon:	n/a	n/a
17	POLR2A	chr2:85831016-85832326	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr2:85831062-85832357	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:85831720-85831882	A549	lung:	n/a	n/a
20	POLR2A	chr2:85831561-85832367	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:85831733-85831886	A549	lung:	n/a	n/a
22	POLR2A	chr2:85831674-85832119	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:85830971-85836753	K562	blood:	n/a	n/a
24	POLR2A	chr2:85831717-85831947	GM12878	blood:	n/a	n/a
25	MAFF	chr2:85831817-85831873	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:85830849-85832382	K562	blood:	n/a	n/a
27	POLR2A	chr2:85830882-85832475	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:85831479-85832033	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr2:85831593-85832048	U87	brain:	n/a	n/a
30	POLR2A	chr2:85831559-85832085	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:85831561-85831974	GM12892	blood:	n/a	n/a
32	POLR2A	chr2:85831737-85832346	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:85831578-85831978	K562	blood:	n/a	n/a
34	POLR2A	chr2:85831602-85832202	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr2:85831712-85831945	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:85831621-85831880	A549	lung:	n/a	n/a
37	POLR2A	chr2:85831675-85832103	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:85831620-85832240	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:85831529-85832316	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr2:85831713-85831892	ProgFib	skin:	n/a	n/a
41	POLR2A	chr2:85831284-85835767	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:85831593-85832062	U87	brain:	n/a	n/a
43	POLR2A	chr2:85831675-85831876	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:85831533-85831894	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:85831623-85832131	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr2:85831674-85832369	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr2:85831631-85831912	A549	lung:	n/a	n/a
48	POLR2A	chr2:85831615-85831893	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:85830916-85832258	GM12892	blood:	n/a	n/a
50	GATA3	chr2:85831655-85832022	T-47D	breast:	n/a	chr2:85831862-85831869 chr2:85831861-85831871 chr2:85831862-85831871

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:85788277..85790552-chr2:85828325..85833718,7	MCF-7	breast:
2	chr2:85616830..85619034-chr2:85831650..85834132,2	MCF-7	breast:
3	chr2:85621094..85626014-chr2:85830124..85833920,6	MCF-7	breast:
4	chr2:85635656..85637221-chr2:85830301..85832133,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM150A	TF binding region
ENSG00000118640	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs3024803	1.00[AMR][1000 genomes]
rs3024805	1.00[AMR][1000 genomes]
rs3024810	1.00[AMR][1000 genomes]
rs3024811	1.00[AMR][1000 genomes]
rs3024815	0.87[AMR][1000 genomes]
rs3024818	0.87[AMR][1000 genomes]
rs3024819	0.87[AMR][1000 genomes]
rs3024822	0.87[AMR][1000 genomes]
rs3024827	0.87[AMR][1000 genomes]
rs3024828	0.87[AMR][1000 genomes]
rs57175088	1.00[AMR][1000 genomes]
rs57762218	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57789237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59048598	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59227664	0.87[AMR][1000 genomes]
rs60661938	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60755293	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60801683	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61535370	0.87[AMR][1000 genomes]
rs61536745	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6718028	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72923039	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72923051	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72923062	0.87[AMR][1000 genomes]
rs72923064	0.87[AMR][1000 genomes]
rs72923077	0.87[AMR][1000 genomes]
rs72923080	0.87[AMR][1000 genomes]
rs72923082	0.87[AMR][1000 genomes]
rs7564769	0.87[AMR][1000 genomes]
rs7579847	0.87[AMR][1000 genomes]
rs7580358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589436	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7599812	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:85830600-85832000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:85830600-85832000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:85830600-85832200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:85830600-85832400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:85830600-85834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:85830600-85835800	Enhancers	Fetal Heart	heart
7	chr2:85830600-85836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:85830800-85832000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:85830800-85832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:85830800-85832000	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:85830800-85832000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:85830800-85832000	Enhancers	Esophagus	oesophagus
13	chr2:85830800-85832000	Enhancers	Gastric	stomach
14	chr2:85830800-85832000	Enhancers	Lung	lung
15	chr2:85830800-85832000	Enhancers	Ovary	ovary
16	chr2:85830800-85832000	Enhancers	Pancreas	Pancrea
17	chr2:85830800-85832200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:85830800-85832200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:85830800-85832200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:85830800-85832200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:85830800-85832200	Enhancers	Psoas Muscle	Psoas
22	chr2:85830800-85832200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:85830800-85832200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
24	chr2:85830800-85832400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:85830800-85832600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:85830800-85832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:85830800-85832800	Weak transcription	Fetal Kidney	kidney
28	chr2:85830800-85833400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:85830800-85833600	Enhancers	Stomach Mucosa	stomach
30	chr2:85830800-85835600	Enhancers	Right Atrium	heart
31	chr2:85830800-85838200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:85830800-85838200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:85830800-85838600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:85831000-85832000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:85831000-85832000	Flanking Active TSS	Liver	Liver
36	chr2:85831000-85832000	Enhancers	Right Ventricle	heart
37	chr2:85831000-85832000	Flanking Active TSS	NHEK	skin
38	chr2:85831000-85832200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:85831000-85832600	Flanking Active TSS	HepG2	liver
40	chr2:85831000-85832800	Weak transcription	Primary T cells from cord blood	blood
41	chr2:85831000-85833000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:85831000-85833200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:85831000-85833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:85831000-85833600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:85831200-85832000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:85831200-85832000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:85831200-85832000	Enhancers	Fetal Brain Female	brain
48	chr2:85831200-85832000	Enhancers	Spleen	Spleen
49	chr2:85831200-85832000	Weak transcription	A549	lung
50	chr2:85831200-85832000	Enhancers	Hela-S3	cervix

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