Variant report

Variant	rs11891871
Chromosome Location	chr2:39728431-39728432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39722036..39725199-chr2:39726283..39729688,3	K562	blood:
2	chr2:39720512..39723979-chr2:39726252..39731559,5	MCF-7	breast:
3	chr2:39727590..39729545-chr2:39736063..39738935,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11124684	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11124685	0.81[EUR][1000 genomes]
rs11677700	0.80[ASN][1000 genomes]
rs11695072	0.88[CHD][hapmap];1.00[LWK][hapmap]
rs7585512	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11891871	THUMPD2	cis	parietal	SCAN
rs11891871	DHX57	cis	parietal	SCAN
rs11891871	MAP4K3	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39722200-39730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:39722400-39731200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:39722600-39731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39722800-39731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:39723400-39738400	Weak transcription	Lung	lung
7	chr2:39723600-39730400	Weak transcription	HSMM	muscle
8	chr2:39723800-39731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:39724800-39750600	Weak transcription	Gastric	stomach
10	chr2:39726000-39728600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:39726200-39731400	Weak transcription	Colonic Mucosa	Colon
12	chr2:39726400-39731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:39726600-39730400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:39726600-39730600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:39726600-39731200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:39726600-39731600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:39726600-39731600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:39726800-39729600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:39726800-39730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:39726800-39730400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:39726800-39730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:39726800-39731200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:39726800-39731400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:39726800-39731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:39727000-39730000	Weak transcription	NHDF-Ad	bronchial
26	chr2:39727000-39731200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:39727000-39732800	Weak transcription	Psoas Muscle	Psoas
28	chr2:39727200-39728600	Enhancers	Ovary	ovary
29	chr2:39727600-39728600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:39727800-39728600	Enhancers	Fetal Intestine Large	intestine
31	chr2:39727800-39728800	Enhancers	Fetal Heart	heart
32	chr2:39728000-39729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:39728000-39729600	Weak transcription	NHLF	lung
34	chr2:39728000-39730400	Weak transcription	Liver	Liver
35	chr2:39728000-39730400	Weak transcription	Fetal Stomach	stomach
36	chr2:39728000-39730600	Weak transcription	Pancreas	Pancrea
37	chr2:39728000-39731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:39728000-39731200	Weak transcription	Right Atrium	heart
39	chr2:39728000-39731200	Weak transcription	Small Intestine	intestine
40	chr2:39728000-39731400	Weak transcription	Left Ventricle	heart
41	chr2:39728000-39731400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:39728200-39728600	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:39728200-39728800	Enhancers	HepG2	liver
44	chr2:39728200-39729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:39728200-39729800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:39728200-39730400	Weak transcription	Placenta	Placenta
47	chr2:39728200-39730400	Weak transcription	HSMMtube	muscle
48	chr2:39728200-39730600	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:39728200-39731200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:39728200-39731200	Weak transcription	Fetal Lung	lung

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