Variant report

Variant	rs73340145
Chromosome Location	chr7:50107669-50107670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17133674	0.88[AFR][1000 genomes]
rs1911747	0.90[AFR][1000 genomes]
rs56178570	0.88[AFR][1000 genomes]
rs61335727	0.90[AFR][1000 genomes]
rs73334180	0.95[AFR][1000 genomes]
rs73337760	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340131	0.88[AFR][1000 genomes]
rs73340133	0.97[AFR][1000 genomes]
rs73340143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340150	0.88[AFR][1000 genomes]
rs73340153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv830997	chr7:49970866-50136498	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv830998	chr7:50103183-50156564	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50106800-50108400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:50107000-50108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:50107000-50108000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr7:50107200-50107800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50107200-50107800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:50107200-50107800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:50107200-50107800	Active TSS	Stomach Smooth Muscle	stomach
8	chr7:50107200-50108000	Enhancers	Primary T cells from cord blood	blood
9	chr7:50107200-50108000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:50107200-50108000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:50107200-50108000	Enhancers	Fetal Kidney	kidney
12	chr7:50107200-50108200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:50107200-50108200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:50107200-50108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:50107200-50108200	Enhancers	Aorta	Aorta
16	chr7:50107200-50108200	Enhancers	Fetal Stomach	stomach
17	chr7:50107200-50108400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:50107200-50108400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:50107200-50108400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:50107200-50108400	Enhancers	Fetal Intestine Small	intestine
21	chr7:50107200-50108400	Enhancers	Fetal Thymus	thymus
22	chr7:50107200-50108400	Enhancers	Small Intestine	intestine
23	chr7:50107200-50108600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:50107400-50107800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:50107400-50107800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:50107400-50107800	Enhancers	Brain Angular Gyrus	brain
27	chr7:50107400-50107800	Enhancers	Colon Smooth Muscle	Colon
28	chr7:50107400-50107800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:50107400-50107800	Enhancers	Thymus	Thymus
30	chr7:50107400-50108000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:50107400-50108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:50107400-50108000	Enhancers	HMEC	breast
33	chr7:50107400-50108400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:50107400-50108400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:50107400-50108400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:50107400-50108400	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:50107400-50108400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:50107400-50108400	Enhancers	Dnd41	blood
39	chr7:50107400-50108600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr7:50107400-50108600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:50107400-50108600	Enhancers	Fetal Intestine Large	intestine
42	chr7:50107400-50108600	Enhancers	Fetal Lung	lung
43	chr7:50107400-50109200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:50107600-50107800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:50107600-50107800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:50107600-50107800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:50107600-50107800	Enhancers	Liver	Liver
48	chr7:50107600-50107800	Active TSS	Brain Hippocampus Middle	brain
49	chr7:50107600-50107800	Enhancers	Brain Substantia Nigra	brain
50	chr7:50107600-50107800	Enhancers	Duodenum Smooth Muscle	Duodenum

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