Variant report

Variant	rs7790221
Chromosome Location	chr7:2814405-2814406
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
2	chr7:2812131..2814669-chr7:2818641..2821283,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10487576	1.00[EUR][1000 genomes]
rs10487577	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs16870623	0.92[EUR][1000 genomes]
rs17132628	0.84[EUR][1000 genomes]
rs17132636	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17132643	0.92[EUR][1000 genomes]
rs17132648	1.00[EUR][1000 genomes]
rs17132655	1.00[EUR][1000 genomes]
rs17132661	1.00[EUR][1000 genomes]
rs17132663	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17132669	1.00[EUR][1000 genomes]
rs17132685	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17132693	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17132706	1.00[CEU][hapmap];1.00[MEX][hapmap];0.92[EUR][1000 genomes]
rs17132714	0.92[EUR][1000 genomes]
rs17132722	0.92[EUR][1000 genomes]
rs17132725	0.92[EUR][1000 genomes]
rs17150393	1.00[EUR][1000 genomes]
rs2013926	0.92[EUR][1000 genomes]
rs2013939	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs57065076	1.00[EUR][1000 genomes]
rs57344547	0.92[EUR][1000 genomes]
rs59828898	0.84[EUR][1000 genomes]
rs6978793	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv2761071	chr7:2811338-2822933	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2817000	Weak transcription	Dnd41	blood
6	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:2800200-2815800	Weak transcription	Liver	Liver
9	chr7:2800800-2817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:2800800-2818200	Weak transcription	Hela-S3	cervix
11	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:2802000-2817200	Weak transcription	HSMMtube	muscle
16	chr7:2802200-2815800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:2803200-2814600	Weak transcription	Fetal Brain Female	brain
19	chr7:2803200-2822600	Weak transcription	Right Ventricle	heart
20	chr7:2803400-2818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:2803400-2818000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:2803600-2814800	Weak transcription	NHEK	skin
24	chr7:2803600-2820800	Weak transcription	Fetal Heart	heart
25	chr7:2803600-2822200	Weak transcription	HUVEC	blood vessel
26	chr7:2803600-2822600	Weak transcription	Left Ventricle	heart
27	chr7:2803600-2824200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:2803800-2814800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:2803800-2815800	Weak transcription	Adipose Nuclei	Adipose
31	chr7:2803800-2816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:2803800-2818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:2803800-2821000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:2803800-2823800	Weak transcription	NH-A	brain
35	chr7:2803800-2824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:2804400-2821200	Weak transcription	NHDF-Ad	bronchial
37	chr7:2804600-2814800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:2804600-2815200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:2804600-2818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:2808200-2815800	Weak transcription	Fetal Intestine Large	intestine
42	chr7:2808200-2817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:2808800-2816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:2809000-2814800	Weak transcription	Brain Germinal Matrix	brain
45	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:2810800-2816000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
48	chr7:2811200-2815600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:2811200-2815800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:2811400-2815000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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