Variant report

Variant	rs4730522
Chromosome Location	chr7:111937836-111937837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111935565..111938223-chr7:111940915..111942865,2	K562	blood:
2	chr7:111935052..111937949-chr7:111944380..111946424,2	K562	blood:
3	chr7:111929778..111931820-chr7:111935199..111938060,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10233086	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269050	0.90[ASN][1000 genomes]
rs10953707	0.90[ASN][1000 genomes]
rs2188533	1.00[CEU][hapmap]
rs2729532	0.83[ASN][1000 genomes]
rs2729533	0.83[ASN][1000 genomes]
rs2729539	0.81[ASN][1000 genomes]
rs4727765	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730513	0.90[ASN][1000 genomes]
rs62473135	0.80[ASN][1000 genomes]
rs62473136	1.00[ASN][1000 genomes]
rs62473142	0.96[ASN][1000 genomes]
rs62473155	0.93[ASN][1000 genomes]
rs6466405	1.00[YRI][hapmap]
rs6947391	1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971586	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971683	0.81[ASN][1000 genomes]
rs6972306	1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757193	0.81[ASN][1000 genomes]
rs7790943	0.90[ASN][1000 genomes]
rs7792170	0.90[ASN][1000 genomes]
rs7792614	0.86[ASN][1000 genomes]
rs7795136	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810513	0.98[ASN][1000 genomes]
rs9656191	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
6	chr7:111920600-111942200	Weak transcription	HepG2	liver
7	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:111922400-111949800	Weak transcription	Ovary	ovary
10	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
11	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
13	chr7:111923600-111964800	Weak transcription	Gastric	stomach
14	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
15	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:111926600-111938000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:111926600-111938000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:111926600-111938600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:111926600-111942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
21	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:111926800-111942800	Weak transcription	Fetal Kidney	kidney
24	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
28	chr7:111926800-111964800	Weak transcription	Lung	lung
29	chr7:111927000-111938400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
31	chr7:111927400-111938600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:111927400-111940000	Weak transcription	Brain Germinal Matrix	brain
33	chr7:111927400-111945800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
35	chr7:111928600-111947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:111928800-111938600	Weak transcription	Left Ventricle	heart
38	chr7:111928800-111942200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:111928800-111946600	Weak transcription	Brain Substantia Nigra	brain
40	chr7:111928800-111949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:111928800-111949800	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:111928800-111950000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
44	chr7:111929000-111938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:111929000-111938600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:111929000-111940000	Weak transcription	Fetal Brain Male	brain
47	chr7:111929000-111947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:111929000-111948800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:111929000-111949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:111929000-111949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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