Variant report

Variant	rs1006338
Chromosome Location	chr12:1598836-1598837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1598160..1599823-chr12:1609239..1611026,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10773946	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7973873	1.00[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv573	chr12:1560167-1604539	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1049391	chr12:1589463-1622803	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1051478	chr12:1590503-1626412	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1006338	ERC1	cis	hippocampus	BrainEAC

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1558400-1599400	Weak transcription	Pancreas	Pancrea
2	chr12:1567400-1599600	Weak transcription	Gastric	stomach
3	chr12:1579600-1600200	Weak transcription	K562	blood
4	chr12:1583200-1599000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:1583400-1599400	Weak transcription	HepG2	liver
6	chr12:1583400-1602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:1584000-1599200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:1584000-1599200	Weak transcription	Lung	lung
9	chr12:1584000-1599400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:1584200-1599000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:1584200-1599400	Weak transcription	Right Ventricle	heart
12	chr12:1584400-1599000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:1584400-1599600	Weak transcription	Ovary	ovary
14	chr12:1584600-1599200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:1584800-1599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:1584800-1599200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1584800-1599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:1584800-1601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:1584800-1604600	Weak transcription	Fetal Kidney	kidney
20	chr12:1585000-1599400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:1585000-1599400	Weak transcription	Fetal Brain Male	brain
22	chr12:1585200-1599200	Weak transcription	Brain Germinal Matrix	brain
23	chr12:1585200-1605400	Weak transcription	Fetal Heart	heart
24	chr12:1587600-1603400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:1591000-1599400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:1591000-1600400	Weak transcription	HSMMtube	muscle
27	chr12:1591200-1599600	Weak transcription	Fetal Lung	lung
28	chr12:1591400-1599200	Weak transcription	Liver	Liver
29	chr12:1591400-1600800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:1592200-1599600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:1595200-1599200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:1596000-1599000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:1596000-1599000	Enhancers	Dnd41	blood
34	chr12:1596000-1599400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:1596200-1599000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:1596200-1599000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:1596600-1599000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:1596600-1600800	Weak transcription	Hela-S3	cervix
39	chr12:1596800-1605000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:1597000-1599200	Weak transcription	Fetal Intestine Large	intestine
41	chr12:1597000-1599400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:1597000-1599400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:1597000-1599400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:1597200-1599600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:1597200-1603800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:1597400-1599600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:1597800-1599000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:1597800-1599000	Enhancers	HMEC	breast
49	chr12:1598000-1599000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:1598000-1599000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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