Variant report

Variant	rs13385341
Chromosome Location	chr2:32147110-32147111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32136546..32142489-chr2:32145658..32148924,5	K562	blood:
2	chr2:32143049..32144926-chr2:32146228..32148007,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153837	1.00[EUR][1000 genomes]
rs12328661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011667	1.00[EUR][1000 genomes]
rs17011668	1.00[EUR][1000 genomes]
rs6543641	1.00[EUR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
3	chr2:32086600-32174400	Weak transcription	NHLF	lung
4	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
7	chr2:32100800-32147800	Weak transcription	Spleen	Spleen
8	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
9	chr2:32114400-32153800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
11	chr2:32116800-32148000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
14	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:32117000-32205200	Weak transcription	NH-A	brain
16	chr2:32118600-32170600	Weak transcription	Gastric	stomach
17	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:32127400-32151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:32127400-32160400	Weak transcription	Thymus	Thymus
21	chr2:32127400-32190200	Weak transcription	Lung	lung
22	chr2:32127600-32151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:32127600-32152200	Weak transcription	Fetal Brain Female	brain
24	chr2:32127600-32156000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:32127600-32165600	Weak transcription	Dnd41	blood
26	chr2:32127800-32154600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:32128000-32151000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:32128400-32170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:32130200-32165800	Weak transcription	Esophagus	oesophagus
31	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:32133600-32157200	Weak transcription	HUVEC	blood vessel
33	chr2:32133800-32157600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:32134000-32147600	Weak transcription	GM12878-XiMat	blood
35	chr2:32134000-32148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:32134200-32151000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:32134200-32159200	Weak transcription	Primary T cells from cord blood	blood
38	chr2:32134200-32167600	Weak transcription	Brain Germinal Matrix	brain
39	chr2:32134600-32166800	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:32135600-32152000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:32136000-32147400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:32137000-32152400	Weak transcription	Brain Anterior Caudate	brain
44	chr2:32137000-32167000	Weak transcription	A549	lung
45	chr2:32137000-32168000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:32137000-32170000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
48	chr2:32137200-32166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:32137200-32167600	Weak transcription	Ovary	ovary
50	chr2:32137600-32168000	Weak transcription	Fetal Muscle Leg	muscle

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