Variant report

Variant	rs34314366
Chromosome Location	chr7:66423943-66423944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66422628..66424264-chr7:66461840..66463428,2	K562	blood:
2	chr7:66415946..66417967-chr7:66421383..66424025,2	K562	blood:
3	chr7:66415946..66418583-chr7:66421177..66424025,3	K562	blood:
4	chr7:66421917..66425693-chr7:66427174..66429869,5	K562	blood:
5	chr7:66411722..66413311-chr7:66423675..66425541,2	K562	blood:

Variant related genes	Relation type
ENSG00000198874	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13228779	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13229468	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13232393	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13233569	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13235282	0.81[AFR][1000 genomes]
rs13236129	0.81[AFR][1000 genomes]
rs13238478	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13238612	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13246227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573944	0.81[AFR][1000 genomes]
rs1880644	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2178742	0.81[AFR][1000 genomes]
rs34162778	0.81[AFR][1000 genomes]
rs34423980	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34559676	0.81[AFR][1000 genomes]
rs34785430	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34816289	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35043782	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35111158	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35315599	0.81[AFR][1000 genomes]
rs35390465	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35481333	0.81[AFR][1000 genomes]
rs35508430	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35676956	0.81[AFR][1000 genomes]
rs35821254	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35876551	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36059333	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4457208	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55889925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56006261	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56235846	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56675463	0.81[AFR][1000 genomes]
rs60201031	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67319329	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71535635	0.85[AFR][1000 genomes]
rs71563136	0.81[AFR][1000 genomes]
rs869249	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs876743	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34314366	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34314366	ASL	cis	multi-tissue	Pritchard
rs34314366	RP4-756H11.3	cis	lung	GTEx
rs34314366	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs34314366	VKORC1L1	Cis_chr	lymphoblastoid	RTeQTL
rs34314366	GUSB	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:66402400-66424200	Strong transcription	Dnd41	blood
4	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
11	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
12	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:66405000-66424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
16	chr7:66406400-66424400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:66406400-66425000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:66406600-66425800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:66406600-66425800	Strong transcription	Liver	Liver
20	chr7:66406600-66425800	Strong transcription	Fetal Brain Female	brain
21	chr7:66406600-66426400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:66406800-66425200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:66406800-66425800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:66406800-66425800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:66406800-66426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:66406800-66426000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:66407000-66424600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:66407400-66424200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:66408000-66425000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:66409400-66425800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:66409800-66425800	Strong transcription	Brain Germinal Matrix	brain
32	chr7:66411400-66425400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:66412200-66424600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:66412800-66424200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:66414000-66425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:66414800-66425200	Strong transcription	Primary T cells from cord blood	blood
37	chr7:66415000-66424200	Strong transcription	Primary B cells from cord blood	blood
38	chr7:66415400-66424200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr7:66415400-66424200	Strong transcription	Fetal Lung	lung
40	chr7:66415400-66424400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:66415400-66424800	Strong transcription	GM12878-XiMat	blood
42	chr7:66416200-66424000	Strong transcription	Brain Anterior Caudate	brain
43	chr7:66416400-66424800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr7:66417400-66425800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:66417800-66424000	Strong transcription	Osteobl	bone
46	chr7:66417800-66425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:66418000-66425800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:66418000-66425800	Strong transcription	Lung	lung
49	chr7:66418000-66426600	Strong transcription	Spleen	Spleen
50	chr7:66418000-66427000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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