Variant report

Variant	rs212444
Chromosome Location	chr7:105530591-105530592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs142752	0.85[CEU][hapmap]
rs17357322	0.92[ASN][1000 genomes]
rs212427	1.00[CEU][hapmap]
rs212429	1.00[CEU][hapmap]
rs212430	0.82[CEU][hapmap]
rs212434	1.00[CEU][hapmap]
rs212438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212439	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212440	1.00[CEU][hapmap]
rs212441	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212442	1.00[CEU][hapmap]
rs212443	1.00[CEU][hapmap]

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

No data

Chromatin state (count:69 , 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	chr7:105521800-105531000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:105522000-105531000	Weak transcription	Liver	Liver
17	chr7:105522000-105537200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:105522400-105537200	Weak transcription	Gastric	stomach
19	chr7:105522400-105549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:105524400-105536000	Weak transcription	HepG2	liver
21	chr7:105524800-105533200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:105525800-105531000	Weak transcription	Fetal Stomach	stomach
23	chr7:105525800-105542400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:105526000-105541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:105526200-105531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:105526200-105531000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:105526200-105531200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:105526200-105532600	Weak transcription	Left Ventricle	heart
29	chr7:105526200-105536200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:105526200-105537200	Weak transcription	Fetal Brain Female	brain
31	chr7:105526200-105537200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:105526200-105537400	Weak transcription	Fetal Lung	lung
33	chr7:105526400-105530800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:105526400-105547200	Weak transcription	Adipose Nuclei	Adipose
35	chr7:105527200-105530800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:105527800-105531000	Weak transcription	Brain Germinal Matrix	brain
37	chr7:105527800-105547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:105527800-105547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:105528000-105531800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:105528200-105537200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:105528200-105537200	Weak transcription	Stomach Mucosa	stomach
42	chr7:105528400-105530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:105528400-105530800	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:105528400-105530800	Weak transcription	HMEC	breast
45	chr7:105528400-105531600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:105528400-105532800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:105528400-105537200	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:105528600-105532800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:105528600-105532800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:105528600-105534400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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