Variant report

Variant	rs73370630
Chromosome Location	chr7:65382732-65382733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65376185..65378853-chr7:65380518..65384400,3	K562	blood:
2	chr7:65382156..65384408-chr7:65393211..65394877,2	K562	blood:
3	chr7:65375618..65377685-chr7:65381677..65383468,2	K562	blood:
4	chr7:65381261..65383587-chr7:65391011..65392681,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57096373	1.00[AFR][1000 genomes]
rs60083597	1.00[AFR][1000 genomes]
rs73368782	1.00[AFR][1000 genomes]
rs73368785	1.00[AFR][1000 genomes]
rs73370626	1.00[AFR][1000 genomes]
rs73370678	1.00[AFR][1000 genomes]
rs73370701	1.00[AFR][1000 genomes]
rs73372635	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339600-65394400	Weak transcription	HMEC	breast
2	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:65351800-65389200	Weak transcription	Lung	lung
4	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
6	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
8	chr7:65364800-65387400	Weak transcription	K562	blood
9	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:65367600-65388200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:65369600-65383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
18	chr7:65369600-65405800	Weak transcription	NHEK	skin
19	chr7:65370000-65387000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:65371600-65392800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:65371800-65392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:65372000-65392000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:65373000-65389600	Weak transcription	HepG2	liver
24	chr7:65373000-65389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:65373000-65390200	Weak transcription	Thymus	Thymus
26	chr7:65373000-65403200	Weak transcription	A549	lung
27	chr7:65373200-65392200	Weak transcription	Fetal Intestine Small	intestine
28	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:65374800-65402800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:65375400-65396600	Weak transcription	Liver	Liver
32	chr7:65375600-65388400	Weak transcription	Ovary	ovary
33	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
34	chr7:65375800-65386000	Weak transcription	HSMM	muscle
35	chr7:65375800-65389800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:65376000-65383000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:65376000-65384400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:65376200-65392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:65376400-65389000	Weak transcription	Fetal Lung	lung
40	chr7:65377600-65402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:65378000-65382800	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:65378400-65384200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:65378400-65388200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:65379000-65385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:65379200-65383200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
47	chr7:65381000-65389800	Weak transcription	Fetal Intestine Large	intestine
48	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
50	chr7:65382200-65383000	Enhancers	Psoas Muscle	Psoas

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