Variant report

Variant	rs4722740
Chromosome Location	chr7:27787009-27787010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27785850..27788466-chr7:27796685..27798501,2	K562	blood:
2	chr7:27785977..27788365-chr7:27790944..27793123,2	K562	blood:
3	chr7:27784788..27787305-chr7:27787434..27789144,2	K562	blood:
4	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
5	chr7:27786993..27792954-chr7:27793164..27797918,6	K562	blood:
6	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
7	chr7:27785607..27787988-chr7:27790744..27792457,5	K562	blood:

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10214930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230973	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10241783	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10250333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17155876	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1859328	0.88[EUR][1000 genomes]
rs2057998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074580	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391485	0.97[ASN][1000 genomes]
rs28521509	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4481475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719906	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55837822	0.86[ASN][1000 genomes]
rs6462050	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462051	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6948467	0.90[ASN][1000 genomes]
rs6970578	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7800116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7807738	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4722740	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs4722740	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:27780800-27789400	Weak transcription	Lung	lung
3	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27780800-27815200	Weak transcription	Gastric	stomach
7	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
10	chr7:27781200-27788000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:27781200-27788000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:27781200-27788400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:27781200-27788800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:27781200-27789000	Weak transcription	Fetal Thymus	thymus
15	chr7:27781200-27789400	Weak transcription	Thymus	Thymus
16	chr7:27781200-27789600	Weak transcription	Fetal Brain Female	brain
17	chr7:27781200-27790200	Weak transcription	Fetal Brain Male	brain
18	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
19	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:27781400-27789400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:27781400-27789600	Weak transcription	Esophagus	oesophagus
22	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
23	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:27782400-27788200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:27782400-27788200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:27782400-27788200	Weak transcription	Placenta	Placenta
28	chr7:27782800-27787200	Weak transcription	Small Intestine	intestine
29	chr7:27783200-27787800	Weak transcription	Primary B cells from cord blood	blood
30	chr7:27784000-27787800	Enhancers	Liver	Liver
31	chr7:27784200-27787600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:27784200-27788000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:27784400-27787400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:27784400-27788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:27784600-27787600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:27784800-27787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:27784800-27787400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:27784800-27788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:27784800-27789000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:27784800-27789000	Weak transcription	Colonic Mucosa	Colon
41	chr7:27784800-27789200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:27784800-27789200	Weak transcription	HSMMtube	muscle
43	chr7:27784800-27790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:27784800-27799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:27785000-27787200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:27785000-27787200	Weak transcription	Pancreas	Pancrea
50	chr7:27785000-27787200	Weak transcription	Psoas Muscle	Psoas

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