Variant report

Variant	rs4044329
Chromosome Location	chr11:17888903-17888904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12420653	1.00[JPT][hapmap]
rs16934767	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2249104	1.00[JPT][hapmap]
rs2734554	1.00[JPT][hapmap]
rs3858500	1.00[JPT][hapmap]
rs3858510	1.00[JPT][hapmap]
rs4756911	1.00[JPT][hapmap]
rs58501231	0.91[ASN][1000 genomes]
rs59141013	0.91[ASN][1000 genomes]
rs61509203	0.91[ASN][1000 genomes]
rs7129561	1.00[JPT][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4044329	LDHC	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17851600-17890800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:17858800-17893200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:17862200-17889000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:17862200-17895400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:17863800-17939200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:17864400-17894600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:17864400-17944800	Weak transcription	Ovary	ovary
9	chr11:17864800-17899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:17866000-17894600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:17866200-17894600	Weak transcription	Liver	Liver
12	chr11:17866600-17895400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:17867800-17890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:17868400-17895200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:17868600-17894800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:17868600-17914000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:17868800-17894600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:17868800-17894800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:17868800-17895200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:17869000-17895400	Weak transcription	Lung	lung
21	chr11:17869000-17909600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:17869000-17916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:17872600-17926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:17873000-17895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:17876400-17900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:17876600-17895200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:17876800-17914000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:17877800-17896400	Weak transcription	HSMM	muscle
29	chr11:17878000-17895400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:17878200-17898600	Weak transcription	GM12878-XiMat	blood
31	chr11:17879000-17894800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:17880600-17889800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:17881800-17890000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:17881800-17895200	Weak transcription	Brain Angular Gyrus	brain
35	chr11:17882000-17894600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:17882600-17894600	Weak transcription	Pancreas	Pancrea
37	chr11:17882800-17943800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:17883200-17896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:17883400-17889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:17884400-17889400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:17884400-17890400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:17884400-17894200	Weak transcription	HepG2	liver
43	chr11:17884400-17919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:17884600-17889800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:17885600-17893000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:17885800-17889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:17885800-17939200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:17886400-17890400	Weak transcription	Primary B cells from cord blood	blood
50	chr11:17887600-17889600	Enhancers	Fetal Thymus	thymus

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