Variant report

Variant	rs4594944
Chromosome Location	chr6:36840767-36840768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36840111..36842444-chr6:37018601..37020201,2	MCF-7	breast:
2	chr6:36839698..36842485-chr6:36952323..36954016,2	K562	blood:
3	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
4	chr6:36840037..36841632-chr6:36952018..36953905,2	K562	blood:

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1632649	0.80[ASN][1000 genomes]
rs2116447	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs2293393	0.84[CHB][hapmap]
rs2303993	0.82[ASN][1000 genomes]
rs236349	0.88[TSI][hapmap]
rs236352	0.82[ASN][1000 genomes]
rs3756905	0.82[ASN][1000 genomes]
rs3778016	0.82[ASN][1000 genomes]
rs3778017	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs3846871	0.81[ASN][1000 genomes]
rs460539	0.85[CHB][hapmap]
rs58214515	0.81[ASN][1000 genomes]
rs62406643	0.81[ASN][1000 genomes]
rs6909988	0.82[ASN][1000 genomes]
rs6914008	0.82[ASN][1000 genomes]
rs831480	0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs9368966	0.83[ASN][1000 genomes]
rs9380618	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs9470426	0.81[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4594944	GLP1R	cis	parietal	SCAN
rs4594944	LRFN2	cis	cerebellum	SCAN
rs4594944	PNPLA1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
2	chr6:36817200-36841200	Weak transcription	Fetal Brain Male	brain
3	chr6:36817200-36842000	Weak transcription	Stomach Mucosa	stomach
4	chr6:36819400-36841800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:36821000-36841400	Weak transcription	Small Intestine	intestine
6	chr6:36821800-36841400	Weak transcription	HSMMtube	muscle
7	chr6:36823600-36841400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:36826400-36841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:36826800-36841400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:36827000-36841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:36827000-36841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:36827000-36841400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:36828000-36841400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:36828200-36841600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:36828600-36841000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:36828800-36841200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:36830800-36841400	Weak transcription	NHDF-Ad	bronchial
18	chr6:36831200-36841400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:36831400-36841000	Weak transcription	NHLF	lung
20	chr6:36831800-36841400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:36831800-36841400	Weak transcription	Brain Substantia Nigra	brain
22	chr6:36831800-36841400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:36831800-36841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:36832200-36842000	Weak transcription	Aorta	Aorta
25	chr6:36832600-36841600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:36833000-36841400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:36833200-36841200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:36833200-36841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:36833400-36841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:36833400-36841400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:36833400-36841400	Weak transcription	Right Atrium	heart
32	chr6:36833800-36841800	Weak transcription	Esophagus	oesophagus
33	chr6:36834200-36841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:36834200-36841400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:36835200-36841400	Weak transcription	Gastric	stomach
36	chr6:36835400-36841400	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:36835600-36840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:36835600-36842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:36835600-36842000	Weak transcription	Lung	lung
40	chr6:36835800-36841200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:36835800-36841400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:36835800-36841400	Weak transcription	Pancreas	Pancrea
43	chr6:36836000-36841400	Weak transcription	Brain Germinal Matrix	brain
44	chr6:36836400-36841400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:36836600-36840800	Weak transcription	Fetal Brain Female	brain
46	chr6:36836800-36841200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:36837000-36841400	Weak transcription	Ovary	ovary
48	chr6:36837000-36842200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:36837600-36841200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:36837600-36841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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