Variant report

Variant	rs3738934
Chromosome Location	chr2:210874246-210874247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210872191..210874254-chr2:210880706..210883554,3	K562	blood:
2	chr2:210869956..210875307-chr2:210879212..210883856,7	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12151736	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs12468576	0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap]
rs12470144	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12613036	0.83[ASW][hapmap];0.84[CEU][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap]
rs2286963	0.83[ASW][hapmap];0.81[CEU][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap]
rs55996099	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7585265	0.83[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601356	0.83[ASW][hapmap];0.81[CEU][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap]

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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Blood metabolite levels	24816252	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3738934	FLJ23861	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210874400	Weak transcription	Lung	lung
2	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
3	chr2:210868200-210879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210868200-210880000	Weak transcription	Aorta	Aorta
5	chr2:210868200-210880000	Weak transcription	Esophagus	oesophagus
6	chr2:210868200-210883200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:210868400-210876000	Weak transcription	Placenta	Placenta
8	chr2:210868400-210879800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:210868400-210880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:210868400-210899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:210869000-210881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:210869200-210874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:210869200-210875800	Weak transcription	NHLF	lung
14	chr2:210869200-210878400	Weak transcription	Osteobl	bone
15	chr2:210869200-210879600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:210869200-210879600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:210869200-210880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:210869200-210880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:210869200-210880600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:210869400-210879800	Weak transcription	HSMMtube	muscle
21	chr2:210869400-210880000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:210869400-210880800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:210869400-210883000	Weak transcription	Colonic Mucosa	Colon
24	chr2:210869400-210891400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:210869600-210874400	Weak transcription	NHDF-Ad	bronchial
26	chr2:210869600-210879800	Weak transcription	Fetal Kidney	kidney
27	chr2:210870000-210880000	Weak transcription	Gastric	stomach
28	chr2:210870000-210886000	Weak transcription	Fetal Brain Male	brain
29	chr2:210870600-210874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:210870600-210875800	Weak transcription	Fetal Brain Female	brain
31	chr2:210870600-210877000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:210870600-210877200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:210870600-210877200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:210870600-210877200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:210870600-210877200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:210870600-210879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:210870600-210880000	Weak transcription	Pancreas	Pancrea
38	chr2:210870800-210876000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:210870800-210890000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:210871000-210889400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:210871000-210893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:210871200-210874400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:210871200-210874600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:210871200-210877000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:210871200-210879800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:210871200-210889200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:210871200-210893000	Strong transcription	Dnd41	blood
48	chr2:210871200-210893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:210871200-210911400	Weak transcription	Psoas Muscle	Psoas
50	chr2:210871400-210878200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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