Variant report

Variant	rs6736341
Chromosome Location	chr2:182671391-182671392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181845007..181846793-chr2:182669919..182671758,2	K562	blood:
2	chr2:182671198..182673524-chr2:182676933..182678703,2	K562	blood:
3	chr2:182653773..182656641-chr2:182670969..182672673,2	K562	blood:

Variant related genes	Relation type
ENSG00000170035	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10166975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171629	0.81[AFR][1000 genomes]
rs10189187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203440	0.81[AFR][1000 genomes]
rs13391733	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13396152	0.85[AFR][1000 genomes]
rs13401364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404156	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867509	0.80[EUR][1000 genomes]
rs17456384	0.84[EUR][1000 genomes]
rs2059702	0.80[EUR][1000 genomes]
rs2288330	0.80[EUR][1000 genomes]
rs2303554	0.80[EUR][1000 genomes]
rs2368235	0.88[EUR][1000 genomes]
rs3731693	0.80[EUR][1000 genomes]
rs3815877	0.84[EUR][1000 genomes]
rs3815878	0.80[EUR][1000 genomes]
rs4597477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732891	0.80[EUR][1000 genomes]
rs55758877	0.84[EUR][1000 genomes]
rs6707164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735322	0.84[EUR][1000 genomes]
rs6736766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6744556	0.80[EUR][1000 genomes]
rs6751464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751685	0.80[EUR][1000 genomes]
rs6754192	0.84[EUR][1000 genomes]
rs6754819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755017	0.80[EUR][1000 genomes]
rs73032623	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600976	0.85[AFR][1000 genomes]
rs7603721	0.80[EUR][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6736341	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182668600-182671400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:182669200-182675600	Weak transcription	Thymus	Thymus
3	chr2:182669200-182676000	Weak transcription	Lung	lung
4	chr2:182669400-182675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:182669400-182675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:182669400-182675600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:182669400-182675800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:182669600-182675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:182669800-182675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:182670000-182675600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:182670200-182675800	Weak transcription	Primary T cells from cord blood	blood
12	chr2:182670400-182675200	Weak transcription	NHEK	skin
13	chr2:182670600-182675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:182670800-182671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:182670800-182671400	Enhancers	HUVEC	blood vessel
16	chr2:182670800-182672200	Weak transcription	Esophagus	oesophagus
17	chr2:182670800-182673400	Weak transcription	Stomach Mucosa	stomach
18	chr2:182670800-182675200	Weak transcription	Dnd41	blood
19	chr2:182670800-182675600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:182671000-182671600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:182671000-182672000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:182671000-182673800	Weak transcription	Fetal Thymus	thymus
23	chr2:182671000-182673800	Weak transcription	Hela-S3	cervix
24	chr2:182671000-182675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:182671000-182675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:182671000-182675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:182671000-182675400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:182671000-182675400	Weak transcription	HMEC	breast
29	chr2:182671000-182675400	Weak transcription	HSMM	muscle
30	chr2:182671000-182675400	Weak transcription	HSMMtube	muscle
31	chr2:182671000-182675400	Weak transcription	K562	blood
32	chr2:182671000-182675400	Weak transcription	NHDF-Ad	bronchial
33	chr2:182671000-182675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:182671000-182675600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:182671000-182675600	Weak transcription	Fetal Kidney	kidney
36	chr2:182671000-182675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:182671000-182675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:182671000-182675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:182671000-182675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:182671000-182675800	Weak transcription	Adipose Nuclei	Adipose
41	chr2:182671000-182675800	Weak transcription	Pancreas	Pancrea
42	chr2:182671000-182676000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:182671000-182676000	Weak transcription	Left Ventricle	heart
44	chr2:182671000-182676000	Weak transcription	Right Atrium	heart
45	chr2:182671000-182678400	Weak transcription	Aorta	Aorta
46	chr2:182671200-182673600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:182671200-182673800	Weak transcription	NH-A	brain
48	chr2:182671200-182674000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:182671200-182674200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:182671200-182675200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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