Variant report

Variant	rs212438
Chromosome Location	chr7:105528339-105528340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105515024..105519848-chr7:105525937..105530815,8	MCF-7	breast:
2	chr7:105524776..105526800-chr7:105527754..105529376,2	MCF-7	breast:
3	chr7:105515766..105519471-chr7:105525958..105528344,4	K562	blood:

Variant related genes	Relation type
ENSG00000128536	Chromatin interaction
ENSG00000146776	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17357322	0.89[ASN][1000 genomes]
rs212439	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212441	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs212438	DPY19L2P2	cis	parietal	SCAN
rs212438	POLR2J	cis	parietal	SCAN
rs212438	ORAI2	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
2	chr7:105518800-105530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
4	chr7:105519000-105532400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:105519000-105542600	Weak transcription	A549	lung
6	chr7:105519400-105532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:105519800-105550600	Weak transcription	NHLF	lung
8	chr7:105520000-105531000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:105520000-105535400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:105520000-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:105520000-105549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:105520000-105549600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:105520200-105550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:105521400-105530800	Weak transcription	NHDF-Ad	bronchial
15	chr7:105521600-105530200	Weak transcription	NHEK	skin
16	chr7:105521800-105531000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:105522000-105531000	Weak transcription	Liver	Liver
18	chr7:105522000-105537200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:105522400-105537200	Weak transcription	Gastric	stomach
20	chr7:105522400-105549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:105524200-105528400	Enhancers	Primary T cells from cord blood	blood
22	chr7:105524400-105536000	Weak transcription	HepG2	liver
23	chr7:105524800-105533200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:105525200-105528400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:105525800-105531000	Weak transcription	Fetal Stomach	stomach
26	chr7:105525800-105542400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:105526000-105541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:105526200-105529400	Weak transcription	Fetal Brain Male	brain
29	chr7:105526200-105531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:105526200-105531000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:105526200-105531200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:105526200-105532600	Weak transcription	Left Ventricle	heart
33	chr7:105526200-105536200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:105526200-105537200	Weak transcription	Fetal Brain Female	brain
35	chr7:105526200-105537200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:105526200-105537400	Weak transcription	Fetal Lung	lung
37	chr7:105526400-105530400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:105526400-105530800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:105526400-105547200	Weak transcription	Adipose Nuclei	Adipose
40	chr7:105526600-105529800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:105526600-105530000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:105526600-105530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:105526600-105530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:105526600-105530200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:105527000-105528400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:105527000-105530200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:105527200-105528400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:105527200-105530200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:105527200-105530800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:105527400-105528600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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