Variant report

Variant	rs11902343
Chromosome Location	chr2:11942480-11942481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11941933-11944533	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr2:11940724-11944041	PFSK-1	brain:	n/a	n/a
3	TAF1	chr2:11942466-11943298	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11939347..11940911-chr2:11941287..11943007,2	K562	blood:
2	chr2:11935812..11937829-chr2:11941434..11944002,2	K562	blood:

Variant related genes	Relation type
LPIN1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11890221	1.00[AMR][1000 genomes]
rs59157966	1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11919800-11948400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:11919800-11949000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
9	chr2:11919800-11959200	Strong transcription	Liver	Liver
10	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
11	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:11924600-11947800	Weak transcription	Right Atrium	heart
16	chr2:11925200-11949400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:11925200-11968600	Strong transcription	NHLF	lung
19	chr2:11925600-11946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:11926200-11948600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:11928400-11948800	Strong transcription	HUVEC	blood vessel
23	chr2:11929600-11944600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:11929800-11947000	Weak transcription	Fetal Heart	heart
25	chr2:11929800-11951200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11929800-11955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:11931800-11948600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:11931800-11948600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
30	chr2:11933400-11943200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:11934200-11943000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:11934200-11944400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:11936200-11942800	Weak transcription	HSMM	muscle
34	chr2:11936600-11943200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:11936800-11957600	Strong transcription	Adipose Nuclei	Adipose
36	chr2:11936800-11958000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:11937000-11944600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:11937000-11944600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:11937200-11943800	Weak transcription	Hela-S3	cervix
41	chr2:11937200-11944600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:11937400-11943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:11937600-11943000	Weak transcription	Small Intestine	intestine
44	chr2:11937600-11943200	Weak transcription	HepG2	liver
45	chr2:11937600-11944600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:11937600-11957600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:11937800-11942800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:11938200-11942800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:11938200-11942800	Weak transcription	Brain Germinal Matrix	brain
50	chr2:11938400-11943400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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