Variant report

Variant	rs11975707
Chromosome Location	chr7:99222792-99222793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99220494..99223341-chr7:99236148..99238394,2	MCF-7	breast:
2	chr7:99221735..99224235-chr7:99676261..99678907,2	K562	blood:
3	chr7:99221268..99223879-chr7:99225955..99229259,4	MCF-7	breast:
4	chr15:69744699..69745212-chr7:99222401..99222901,2	NB4	blood:

Variant related genes	Relation type
ENSG00000166526	Chromatin interaction
ENSG00000224448	Chromatin interaction
ENSG00000137818	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10156164	1.00[EUR][1000 genomes]
rs10224569	1.00[EUR][1000 genomes]
rs10227100	1.00[EUR][1000 genomes]
rs10231168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242209	1.00[EUR][1000 genomes]
rs10249369	0.83[AMR][1000 genomes]
rs10256106	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256572	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264272	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264769	1.00[EUR][1000 genomes]
rs10270499	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271217	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10272855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1083108	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1083109	1.00[EUR][1000 genomes]
rs11487060	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114000	1.00[EUR][1000 genomes]
rs2017121	1.00[EUR][1000 genomes]
rs2687074	1.00[EUR][1000 genomes]
rs2687080	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28443180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539499	1.00[EUR][1000 genomes]
rs28647266	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2980374	1.00[EUR][1000 genomes]
rs34183388	1.00[EUR][1000 genomes]
rs45616432	1.00[EUR][1000 genomes]
rs60135240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963623	1.00[EUR][1000 genomes]
rs6975773	1.00[EUR][1000 genomes]
rs776740	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801671	1.00[EUR][1000 genomes]
rs7807561	1.00[EUR][1000 genomes]
rs7811022	1.00[EUR][1000 genomes]
rs7811025	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99215800-99229400	Strong transcription	Fetal Muscle Leg	muscle
3	chr7:99215800-99229600	Weak transcription	Right Atrium	heart
4	chr7:99215800-99231800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:99215800-99232200	Strong transcription	Fetal Stomach	stomach
6	chr7:99216000-99224400	Weak transcription	Fetal Heart	heart
7	chr7:99216000-99225600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:99216000-99225800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:99216000-99226000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:99216000-99228800	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:99216000-99229000	Strong transcription	K562	blood
12	chr7:99216000-99229400	Strong transcription	Fetal Lung	lung
13	chr7:99216000-99231400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr7:99216200-99224000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:99216200-99224600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:99216200-99224800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:99216200-99225600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:99216200-99225600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:99216200-99225800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:99216200-99226000	Strong transcription	Brain Anterior Caudate	brain
21	chr7:99216200-99228200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:99216200-99229400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:99216200-99229400	Strong transcription	Left Ventricle	heart
24	chr7:99216200-99229800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr7:99216200-99230200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:99216200-99230400	Strong transcription	NHLF	lung
27	chr7:99216200-99230600	Strong transcription	Adipose Nuclei	Adipose
28	chr7:99216200-99231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:99216200-99231800	Strong transcription	Placenta	Placenta
30	chr7:99216200-99231800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:99216200-99232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:99216200-99232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:99216200-99232000	Strong transcription	Fetal Intestine Large	intestine
34	chr7:99216200-99232200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:99216200-99232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:99216200-99232200	Strong transcription	Lung	lung
37	chr7:99216400-99224200	Strong transcription	Right Ventricle	heart
38	chr7:99216400-99225800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:99216400-99228000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:99216400-99228200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:99216400-99228400	Strong transcription	Colon Smooth Muscle	Colon
42	chr7:99216400-99228600	Strong transcription	HepG2	liver
43	chr7:99216400-99229200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr7:99216400-99229200	Strong transcription	Brain Hippocampus Middle	brain
45	chr7:99216400-99229200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:99216400-99229200	Strong transcription	A549	lung
47	chr7:99216400-99229400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:99216400-99230600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:99216400-99231600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:99216400-99231800	Strong transcription	Fetal Brain Female	brain

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