Variant report

Variant	rs7336051
Chromosome Location	chr13:95926431-95926432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95873940..95876786-chr13:95925021..95926772,2	K562	blood:
2	chr13:95923828..95925504-chr13:95926180..95928122,2	K562	blood:
3	chr13:95924370..95928427-chr13:95951382..95954630,5	K562	blood:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10508020	0.89[JPT][hapmap]
rs11842634	0.89[EUR][1000 genomes]
rs11843001	0.89[EUR][1000 genomes]
rs1317503	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16950847	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2389225	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs3764050	0.88[JPT][hapmap]
rs4148427	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148428	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148430	0.82[CEU][hapmap]
rs4148432	0.85[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs4148433	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs4148439	1.00[MEX][hapmap]
rs7317603	0.89[EUR][1000 genomes]
rs7318952	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7319126	0.88[ASN][1000 genomes]
rs7320375	0.85[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7321807	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs7321885	0.90[ASN][1000 genomes]
rs7323283	1.00[EUR][1000 genomes]
rs7324737	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7325256	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs7328332	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7329490	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7337228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986087	0.85[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs871175	1.00[EUR][1000 genomes]
rs9590227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7336051	ABCC4	cis	lymphoblastoid	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:95908000-95926600	Weak transcription	Gastric	stomach
3	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
7	chr13:95919800-95928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:95920200-95928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
10	chr13:95920400-95927400	Weak transcription	Hela-S3	cervix
11	chr13:95920600-95928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:95921600-95927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:95922400-95927600	Weak transcription	Brain Anterior Caudate	brain
14	chr13:95922400-95927800	Weak transcription	NHEK	skin
15	chr13:95922800-95928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:95924000-95926600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:95924000-95927400	Weak transcription	NHDF-Ad	bronchial
19	chr13:95924200-95927400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:95924200-95927600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:95924200-95927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:95924200-95928000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:95924200-95930800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:95924400-95926600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:95924400-95926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:95924400-95927400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:95924400-95927800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:95924400-95927800	Weak transcription	Brain Substantia Nigra	brain
30	chr13:95924400-95927800	Weak transcription	NH-A	brain
31	chr13:95924600-95926600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:95924600-95927400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:95924600-95927400	Weak transcription	HSMM	muscle
34	chr13:95924600-95927600	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:95924600-95928000	Weak transcription	Osteobl	bone
36	chr13:95924600-95928400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr13:95924800-95927400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:95924800-95927400	Weak transcription	HSMMtube	muscle
40	chr13:95924800-95928000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:95924800-95932200	Weak transcription	HUVEC	blood vessel
42	chr13:95925400-95926600	Enhancers	Brain Hippocampus Middle	brain
43	chr13:95925400-95927400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:95925400-95927600	Genic enhancers	A549	lung
45	chr13:95925400-95929000	Enhancers	Colon Smooth Muscle	Colon
46	chr13:95925600-95927000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr13:95925600-95927200	Enhancers	Placenta	Placenta
48	chr13:95925600-95927200	Enhancers	Lung	lung
49	chr13:95925600-95928200	Enhancers	Stomach Mucosa	stomach
50	chr13:95925600-95929000	Enhancers	NHLF	lung

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