Variant report

Variant	rs73230642
Chromosome Location	chr7:127956294-127956295
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127951851..127955286-chr7:127955639..127958757,3	K562	blood:
2	chr7:127951265..127954453-chr7:127955639..127958249,3	K562	blood:
3	chr7:127940019..127941640-chr7:127955342..127957765,2	K562	blood:
4	chr7:127872543..127874497-chr7:127956158..127958595,2	K562	blood:

Variant related genes	Relation type
ENSG00000106344	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11069	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151981	0.93[AFR][1000 genomes]
rs17151983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151996	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152002	1.00[EUR][1000 genomes]
rs17152005	0.98[AFR][1000 genomes]
rs2402890	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281728	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281731	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913412	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56007906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56177738	0.98[AFR][1000 genomes]
rs6467170	0.98[EUR][1000 genomes]
rs6467174	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6952533	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228315	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73230631	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230632	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230649	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230652	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230654	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230657	0.98[EUR][1000 genomes]
rs73230659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721356	0.93[AFR][1000 genomes]
rs73721362	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721363	0.98[AFR][1000 genomes]
rs73721364	0.98[AFR][1000 genomes]
rs7800186	0.98[EUR][1000 genomes]
rs7804796	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
2	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
3	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr7:127940600-127980000	Strong transcription	Liver	Liver
6	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
8	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
9	chr7:127941400-127963400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:127943000-127961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:127943000-127964800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
18	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
20	chr7:127943000-127981200	Strong transcription	Dnd41	blood
21	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127943200-127959400	Strong transcription	Osteobl	bone
23	chr7:127943200-127959600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:127943200-127959800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:127943200-127960400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:127943200-127960600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:127943200-127961000	Strong transcription	Fetal Thymus	thymus
28	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:127943400-127957200	Strong transcription	K562	blood
31	chr7:127943400-127961600	Strong transcription	Fetal Lung	lung
32	chr7:127943400-127979400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:127943400-127979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:127943400-127980000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:127943400-127980000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:127943400-127980000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:127943400-127981400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:127943600-127961400	Strong transcription	Left Ventricle	heart
40	chr7:127944200-127959600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:127944400-127962000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:127944400-127965800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:127944400-127971600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:127944400-127980000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr7:127944400-127980000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:127944400-127980200	Strong transcription	Placenta	Placenta
47	chr7:127944400-127980600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:127944800-127961200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:127944800-127962400	Strong transcription	HSMMtube	muscle
50	chr7:127945200-127962400	Strong transcription	Right Ventricle	heart

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