Variant report

Variant	rs3735021
Chromosome Location	chr7:137563434-137563435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137552799..137554364-chr7:137560762..137563615,2	K562	blood:
2	chr7:137562154..137564910-chr7:137565375..137570111,4	K562	blood:
3	chr7:137561745..137565223-chr7:137565375..137570123,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12531271	0.91[ASW][hapmap]
rs7783145	0.81[CEU][hapmap]
rs9757	0.91[ASW][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3735021	AKR1D1	cis	cerebellum	SCAN
rs3735021	AKR1D1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
3	chr7:137545000-137564200	Weak transcription	Small Intestine	intestine
4	chr7:137546400-137564000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:137550200-137564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:137555600-137563800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137556000-137566800	Strong transcription	GM12878-XiMat	blood
11	chr7:137556000-137570800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:137556400-137564800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:137557000-137566800	Strong transcription	Fetal Intestine Large	intestine
15	chr7:137557000-137570600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:137557200-137564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:137557200-137566800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr7:137557400-137567200	Genic enhancers	Osteobl	bone
19	chr7:137557800-137564400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:137557800-137564600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:137557800-137566400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:137558000-137564800	Enhancers	Fetal Heart	heart
24	chr7:137558200-137565400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr7:137558200-137566800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:137558200-137566800	Strong transcription	Liver	Liver
27	chr7:137558400-137566800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:137558400-137571600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:137558600-137565000	Genic enhancers	Fetal Stomach	stomach
31	chr7:137558600-137566000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
33	chr7:137559000-137564600	Weak transcription	Dnd41	blood
34	chr7:137559400-137568600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:137559400-137575200	Strong transcription	HepG2	liver
36	chr7:137559600-137564000	Weak transcription	Hela-S3	cervix
37	chr7:137559600-137564400	Weak transcription	A549	lung
38	chr7:137559800-137563600	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr7:137559800-137564000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:137560000-137564000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:137560000-137564400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:137560000-137567000	Strong transcription	HUVEC	blood vessel
43	chr7:137560000-137570600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:137560000-137570800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:137560200-137564800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:137560200-137566000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:137560200-137566800	Strong transcription	Pancreas	Pancrea
48	chr7:137560600-137565800	Genic enhancers	HSMMtube	muscle
49	chr7:137560800-137563600	Strong transcription	NH-A	brain
50	chr7:137560800-137564400	Weak transcription	Fetal Kidney	kidney

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