Variant report

Variant	rs62473136
Chromosome Location	chr7:111928605-111928606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111926950..111929480-chr7:112089962..112091558,2	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10233086	0.93[ASN][1000 genomes]
rs10269050	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10953707	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2729532	0.83[ASN][1000 genomes]
rs2729533	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2729539	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4727765	1.00[ASN][1000 genomes]
rs4730513	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4730522	1.00[ASN][1000 genomes]
rs62473135	0.80[ASN][1000 genomes]
rs62473142	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62473155	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6947391	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6971586	1.00[ASN][1000 genomes]
rs6971683	0.81[ASN][1000 genomes]
rs6972306	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs757193	0.81[ASN][1000 genomes]
rs7790943	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7792170	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7792614	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7795136	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7810513	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:98 , 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	chr7:111913600-111929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
7	chr7:111920600-111929600	Weak transcription	NHDF-Ad	bronchial
8	chr7:111920600-111942200	Weak transcription	HepG2	liver
9	chr7:111921200-111929400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:111921200-111937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:111922400-111949800	Weak transcription	Ovary	ovary
14	chr7:111922800-111930200	Weak transcription	A549	lung
15	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
16	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
18	chr7:111923600-111964800	Weak transcription	Gastric	stomach
19	chr7:111926000-111929000	Enhancers	Fetal Brain Male	brain
20	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
21	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:111926400-111929000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:111926600-111929600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:111926600-111929600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:111926600-111932000	Weak transcription	Psoas Muscle	Psoas
26	chr7:111926600-111932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:111926600-111937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:111926600-111938000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:111926600-111938000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:111926600-111938600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:111926600-111942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
33	chr7:111926800-111929600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:111926800-111929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:111926800-111931400	Weak transcription	Thymus	Thymus
36	chr7:111926800-111931800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:111926800-111932200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:111926800-111932200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:111926800-111942800	Weak transcription	Fetal Kidney	kidney
42	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
46	chr7:111926800-111964800	Weak transcription	Lung	lung
47	chr7:111927000-111928800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:111927000-111932600	Strong transcription	Dnd41	blood
49	chr7:111927000-111936600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:111927000-111938400	Weak transcription	Brain Cingulate Gyrus	brain

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