Variant report

Variant	rs691332
Chromosome Location	chr7:129142694-129142695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
2	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
3	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
4	chr20:52793289..52795473-chr7:129142646..129144737,2	MCF-7	breast:
5	chr1:108505293..108507880-chr7:129142330..129144736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction
ENSG00000230489	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000134215	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11768964	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1261979	0.85[AFR][1000 genomes]
rs35842118	0.82[AFR][1000 genomes]
rs610591	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.82[ASN][1000 genomes]
rs613169	0.82[ASN][1000 genomes]
rs639605	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs655239	1.00[ASN][1000 genomes]
rs66516303	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs676947	0.82[ASN][1000 genomes]
rs692132	1.00[ASN][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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3476763	chr7:129141037-129143315	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3476762	chr7:129141086-129143283	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3476765	chr7:129141108-129143242	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3476766	chr7:129141178-129143206	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr7:129141200-129143000	Active TSS	Brain Anterior Caudate	brain
2	chr7:129141400-129142800	Flanking Active TSS	Dnd41	blood
3	chr7:129141400-129143000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129141400-129143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:129141400-129143200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:129141400-129143200	Active TSS	Hela-S3	cervix
7	chr7:129141400-129143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:129141600-129142800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:129141600-129142800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129141600-129142800	Active TSS	Brain Germinal Matrix	brain
11	chr7:129141600-129142800	Active TSS	Brain Hippocampus Middle	brain
12	chr7:129141600-129142800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:129141600-129142800	Bivalent/Poised TSS	Fetal Lung	lung
14	chr7:129141600-129143000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:129141600-129143000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:129141600-129143200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:129141600-129143200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:129141600-129143200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:129141600-129143200	Active TSS	Fetal Kidney	kidney
20	chr7:129141600-129143200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:129141600-129143200	Active TSS	A549	lung
22	chr7:129141600-129143400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:129141600-129143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:129141800-129142800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr7:129141800-129142800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:129141800-129142800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:129141800-129142800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:129141800-129142800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:129141800-129142800	Active TSS	HSMMtube	muscle
30	chr7:129141800-129143000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:129141800-129143000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:129141800-129143000	Active TSS	Brain Substantia Nigra	brain
33	chr7:129141800-129143000	Active TSS	Rectal Smooth Muscle	rectum
34	chr7:129141800-129143000	Active TSS	Right Atrium	heart
35	chr7:129141800-129143200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr7:129141800-129143200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:129141800-129143200	Active TSS	HSMM	muscle
38	chr7:129142000-129142800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr7:129142000-129142800	Active TSS	Primary B cells from peripheral blood	blood
40	chr7:129142000-129142800	Active TSS	Primary T cells from cord blood	blood
41	chr7:129142000-129142800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr7:129142000-129142800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:129142000-129142800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:129142000-129142800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:129142000-129142800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr7:129142000-129142800	Active TSS	Brain Cingulate Gyrus	brain
47	chr7:129142000-129142800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr7:129142000-129142800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:129142000-129142800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr7:129142000-129142800	Active TSS	Sigmoid Colon	Sigmoid Colon

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