Variant report

Variant	rs13027811
Chromosome Location	chr2:173300673-173300674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173297263..173301573-chr2:173305902..173308346,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35265291	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35974400	0.86[AMR][1000 genomes];0.97[EUR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13027811	ITGA6	cis	parietal	SCAN
rs13027811	DYNC1I2	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294000-173301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:173294400-173301400	Weak transcription	Aorta	Aorta
4	chr2:173294600-173302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:173294600-173302600	Weak transcription	NH-A	brain
7	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:173294600-173303400	Weak transcription	NHLF	lung
9	chr2:173294800-173302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:173294800-173302400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
13	chr2:173295000-173300800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:173295000-173301200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:173295000-173302200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:173295200-173302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:173295600-173301600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
22	chr2:173295800-173302400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:173296000-173301800	Weak transcription	HSMM	muscle
24	chr2:173296000-173302400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
26	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:173296200-173303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
30	chr2:173296400-173301200	Enhancers	Adipose Nuclei	Adipose
31	chr2:173296400-173303400	Weak transcription	Liver	Liver
32	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:173296800-173302000	Enhancers	Brain Anterior Caudate	brain
34	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
35	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea
36	chr2:173297200-173303400	Enhancers	Thymus	Thymus
37	chr2:173297200-173304800	Weak transcription	Fetal Kidney	kidney
38	chr2:173297400-173301800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:173297400-173303600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:173297400-173304000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:173297600-173307400	Enhancers	Spleen	Spleen
42	chr2:173297800-173301200	Genic enhancers	HMEC	breast
43	chr2:173298200-173301200	Genic enhancers	HepG2	liver
44	chr2:173298400-173302800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:173298600-173301000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:173298600-173301000	Genic enhancers	Fetal Intestine Small	intestine
47	chr2:173298600-173301200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:173298600-173302000	Enhancers	Gastric	stomach
49	chr2:173298600-173304000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:173298800-173301000	Enhancers	Sigmoid Colon	Sigmoid Colon

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