Variant report

Variant	rs10992671
Chromosome Location	chr9:95952870-95952871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95896311..95898425-chr9:95950555..95953010,2	MCF-7	breast:
2	chr9:95951384..95953897-chr9:95957626..95959182,2	K562	blood:

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10821083	0.80[TSI][hapmap]
rs10821087	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12000524	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154079	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95948200-95958400	Weak transcription	Lung	lung
2	chr9:95948400-95955200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:95948800-95953000	Enhancers	Right Ventricle	heart
4	chr9:95948800-95955000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:95948800-95955800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:95949200-95955800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:95949600-95955600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:95949800-95954600	Weak transcription	Right Atrium	heart
9	chr9:95950000-95953000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:95950000-95953800	Enhancers	Left Ventricle	heart
11	chr9:95950000-95954000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr9:95950000-95960800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:95950200-95954000	Enhancers	Pancreas	Pancrea
14	chr9:95950400-95953000	Genic enhancers	Brain Germinal Matrix	brain
15	chr9:95950400-95953200	Weak transcription	Spleen	Spleen
16	chr9:95950400-95953200	Weak transcription	HepG2	liver
17	chr9:95950400-95953800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:95950400-95955000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:95950400-95955000	Weak transcription	Fetal Intestine Large	intestine
20	chr9:95950400-95955200	Weak transcription	Gastric	stomach
21	chr9:95950600-95955000	Strong transcription	Fetal Intestine Small	intestine
22	chr9:95950800-95967400	Enhancers	Fetal Heart	heart
23	chr9:95951200-95954600	Weak transcription	Fetal Thymus	thymus
24	chr9:95951200-95955000	Weak transcription	Colonic Mucosa	Colon
25	chr9:95951200-95955000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:95951600-95953400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:95951600-95954600	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:95951600-95955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:95951600-95955200	Weak transcription	Stomach Mucosa	stomach
30	chr9:95951600-95955400	Weak transcription	Brain Anterior Caudate	brain
31	chr9:95951600-95955400	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:95951600-95955600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:95951600-95955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:95951800-95953400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:95951800-95954000	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr9:95951800-95954600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:95951800-95954600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:95951800-95954600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr9:95951800-95954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:95951800-95955000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:95951800-95956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:95952000-95954600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:95952000-95954800	Weak transcription	Brain Angular Gyrus	brain
44	chr9:95952200-95955000	Weak transcription	Psoas Muscle	Psoas
45	chr9:95952600-95953000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:95952600-95953000	Enhancers	Fetal Brain Male	brain
47	chr9:95952600-95953800	Genic enhancers	Fetal Brain Female	brain
48	chr9:95952600-95954800	Weak transcription	Esophagus	oesophagus
49	chr9:95952800-95953000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:95952800-95953200	Enhancers	Fetal Muscle Leg	muscle

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