Variant report

Variant	rs73419448
Chromosome Location	chr7:107193368-107193369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107190231..107193854-chr7:107195666..107198677,4	K562	blood:
2	chr7:107190971..107193966-chr7:107201928..107205657,3	MCF-7	breast:
3	chr7:107187820..107189357-chr7:107192646..107194427,2	K562	blood:

Variant related genes	Relation type
ENSG00000164597	Chromatin interaction
ENSG00000105865	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17154063	0.83[EUR][1000 genomes]
rs59650342	0.88[EUR][1000 genomes]
rs66577901	0.93[EUR][1000 genomes]
rs67754921	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67869824	0.93[EUR][1000 genomes]
rs67921365	0.90[EUR][1000 genomes]
rs6945787	0.83[EUR][1000 genomes]
rs6957510	0.88[EUR][1000 genomes]
rs73187349	0.83[EUR][1000 genomes]
rs73187352	0.83[EUR][1000 genomes]
rs73187359	0.83[EUR][1000 genomes]
rs73187360	0.83[EUR][1000 genomes]
rs73187362	0.83[EUR][1000 genomes]
rs73187364	0.83[EUR][1000 genomes]
rs73187367	0.88[EUR][1000 genomes]
rs73187370	0.88[EUR][1000 genomes]
rs73187377	0.90[EUR][1000 genomes]
rs73189572	0.88[EUR][1000 genomes]
rs73189576	0.88[EUR][1000 genomes]
rs73189577	0.88[EUR][1000 genomes]
rs7777628	0.93[EUR][1000 genomes]
rs7786360	0.88[EUR][1000 genomes]
rs7802519	0.88[EUR][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107154000-107193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
4	chr7:107166600-107194600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
7	chr7:107178600-107194200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:107178800-107194400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:107184600-107195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:107185000-107200200	Weak transcription	Pancreas	Pancrea
13	chr7:107185000-107203600	Weak transcription	Gastric	stomach
14	chr7:107185200-107193400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:107185200-107194400	Weak transcription	Aorta	Aorta
16	chr7:107185200-107199800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:107185600-107194600	Weak transcription	Brain Anterior Caudate	brain
20	chr7:107186000-107194000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:107186000-107194600	Weak transcription	Fetal Brain Female	brain
22	chr7:107186000-107194600	Weak transcription	HSMMtube	muscle
23	chr7:107186000-107195400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:107186000-107196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:107186000-107196400	Weak transcription	Right Ventricle	heart
26	chr7:107186000-107200000	Weak transcription	Stomach Mucosa	stomach
27	chr7:107186000-107200200	Weak transcription	NHLF	lung
28	chr7:107186000-107203000	Weak transcription	Brain Germinal Matrix	brain
29	chr7:107186000-107203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:107186200-107194400	Weak transcription	Ovary	ovary
31	chr7:107186200-107194600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:107186200-107194600	Weak transcription	Thymus	Thymus
33	chr7:107186200-107194600	Weak transcription	Spleen	Spleen
34	chr7:107186200-107196200	Weak transcription	Fetal Stomach	stomach
35	chr7:107186200-107196600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:107186200-107197200	Weak transcription	Lung	lung
37	chr7:107186200-107199800	Weak transcription	Small Intestine	intestine
38	chr7:107186200-107200000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:107186200-107203600	Weak transcription	Esophagus	oesophagus
40	chr7:107186200-107203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:107186400-107194400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:107186400-107200000	Weak transcription	Fetal Heart	heart
43	chr7:107186600-107193400	Weak transcription	GM12878-XiMat	blood
44	chr7:107186600-107194200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:107186600-107194400	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:107186600-107196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:107186600-107198800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:107186800-107196600	Weak transcription	HMEC	breast
49	chr7:107186800-107196800	Weak transcription	HepG2	liver
50	chr7:107186800-107197600	Weak transcription	Fetal Lung	lung

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