Variant report

Variant	rs212417
Chromosome Location	chr7:105494963-105494964
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	chr7:105493324..105495060-chr7:105505004..105507170,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs212419	0.88[AFR][1000 genomes]
rs212421	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212422	0.91[AFR][1000 genomes]
rs6947520	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs212417	POLR2J	cis	parietal	SCAN
rs212417	THAP5	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
2	chr7:105479600-105506200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:105480000-105515600	Weak transcription	Ovary	ovary
4	chr7:105482200-105506400	Weak transcription	Psoas Muscle	Psoas
5	chr7:105483000-105506400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:105485200-105502400	Weak transcription	Hela-S3	cervix
7	chr7:105488000-105515600	Weak transcription	Aorta	Aorta
8	chr7:105489600-105497600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:105489800-105506600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:105490200-105495200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:105490200-105515600	Weak transcription	Gastric	stomach
12	chr7:105490200-105516200	Weak transcription	Thymus	Thymus
13	chr7:105490800-105509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:105491000-105511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:105491200-105495600	Weak transcription	Esophagus	oesophagus
16	chr7:105491200-105499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:105491200-105503600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:105491600-105497200	Weak transcription	HepG2	liver
19	chr7:105491600-105497400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:105491600-105511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:105491600-105515200	Weak transcription	Spleen	Spleen
22	chr7:105491800-105501400	Weak transcription	Pancreas	Pancrea
23	chr7:105491800-105503200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:105491800-105515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:105492200-105497600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:105492200-105501400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:105492600-105502000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:105492800-105515800	Weak transcription	A549	lung
29	chr7:105493000-105502600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:105493000-105506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:105493200-105497600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:105493200-105501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:105493200-105516400	Weak transcription	Lung	lung
34	chr7:105493400-105495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:105493400-105497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:105493600-105497400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:105494000-105495600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr7:105494000-105495600	Enhancers	NHLF	lung
39	chr7:105494200-105495000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:105494200-105495200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:105494200-105495200	Enhancers	Fetal Brain Male	brain
42	chr7:105494200-105495200	Enhancers	Fetal Stomach	stomach
43	chr7:105494400-105495000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr7:105494400-105495000	Enhancers	Right Atrium	heart
45	chr7:105494400-105495000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr7:105494400-105495000	Flanking Active TSS	Osteobl	bone
47	chr7:105494400-105495200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:105494400-105495200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:105494400-105495200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:105494400-105495200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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