Variant report

Variant	rs6726001
Chromosome Location	chr2:114488405-114488406
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	chr2:114450920..114453589-chr2:114487817..114489810,2	K562	blood:
2	chr2:114482332..114485532-chr2:114485677..114488517,3	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10168234	0.83[CHB][hapmap]
rs10199704	0.80[LWK][hapmap]
rs10205467	0.84[CHB][hapmap]
rs10206174	0.83[CHB][hapmap]
rs10514810	0.82[CHB][hapmap];0.86[MEX][hapmap]
rs10938	0.84[CHB][hapmap]
rs11676758	0.81[CHB][hapmap]
rs11677881	0.82[CHB][hapmap]
rs11678202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679707	0.84[CHB][hapmap]
rs11679736	0.82[CHB][hapmap]
rs11694541	0.82[CHB][hapmap];0.81[MEX][hapmap]
rs11888457	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11889819	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901060	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs12711782	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12711783	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12711784	0.84[CHB][hapmap]
rs13004622	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs13029093	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs13393663	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1349157	0.80[ASN][1000 genomes]
rs1584434	0.84[CHB][hapmap]
rs17632073	0.82[CHB][hapmap];0.81[MEX][hapmap]
rs2122095	0.83[CHB][hapmap]
rs2166965	0.82[CHB][hapmap]
rs2290107	0.82[CHB][hapmap]
rs2305254	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs2418915	0.82[CHB][hapmap]
rs2418916	0.84[CHB][hapmap]
rs3748907	0.82[CHB][hapmap]
rs41377545	0.82[CHB][hapmap]
rs4849269	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs6704673	0.84[CHB][hapmap]
rs6708711	0.82[CHB][hapmap]
rs6709158	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725990	0.82[CHB][hapmap]
rs6739072	0.84[CHB][hapmap]
rs7561042	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7587218	0.84[CHB][hapmap];0.80[LWK][hapmap]
rs7592689	0.84[CHB][hapmap]
rs7600550	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6726001	IL1F10	cis	cerebellum	SCAN
rs6726001	IL1B	cis	cerebellum	SCAN
rs6726001	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs6726001	SLC35F5	cis	cerebellum	SCAN
rs6726001	SLC35F5	cis	parietal	SCAN
rs6726001	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114458400-114497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:114458400-114500000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
5	chr2:114461600-114499800	Weak transcription	Hela-S3	cervix
6	chr2:114462000-114497400	Weak transcription	Colonic Mucosa	Colon
7	chr2:114463000-114498800	Weak transcription	Esophagus	oesophagus
8	chr2:114464000-114497600	Weak transcription	Right Ventricle	heart
9	chr2:114464000-114497600	Weak transcription	Spleen	Spleen
10	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
11	chr2:114467400-114497200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:114470000-114497400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:114470000-114500200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:114470200-114493400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:114470400-114510800	Strong transcription	HSMM	muscle
19	chr2:114471000-114495600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:114471000-114495600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:114471000-114498600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:114471000-114500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:114473200-114488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:114473200-114494600	Weak transcription	Fetal Heart	heart
25	chr2:114473800-114497200	Weak transcription	NHEK	skin
26	chr2:114474400-114494600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:114474400-114507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:114476000-114506600	Weak transcription	Thymus	Thymus
29	chr2:114478800-114504400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:114478800-114507600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:114479200-114510400	Strong transcription	Liver	Liver
33	chr2:114479800-114507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:114480000-114492800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:114480000-114504000	Strong transcription	Primary B cells from cord blood	blood
36	chr2:114480600-114494600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:114480600-114497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:114480800-114497000	Weak transcription	HUVEC	blood vessel
39	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:114482000-114490200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:114482600-114489600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:114482600-114493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:114482600-114493800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:114482600-114495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:114482800-114489600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:114482800-114489600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:114483000-114506600	Weak transcription	Psoas Muscle	Psoas
48	chr2:114483400-114490000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:114483600-114492400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:114484000-114493200	Strong transcription	Rectal Mucosa Donor 29	rectum

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