Variant report

Variant	rs6967466
Chromosome Location	chr7:116555402-116555403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116548558..116551081-chr7:116553120..116555423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198898	Chromatin interaction
ENSG00000252115	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1060513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952406	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777997	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780748	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791219	0.92[AFR][1000 genomes]
rs7796146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
3	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
5	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
6	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:116532000-116559600	Strong transcription	HSMM	muscle
8	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
12	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
13	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:116543600-116559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:116544000-116568600	Weak transcription	Fetal Brain Male	brain
20	chr7:116544200-116558600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:116546000-116556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:116546200-116559600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:116546200-116560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:116546400-116559600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:116546400-116559600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:116546600-116559200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:116549200-116559200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:116549800-116558200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:116549800-116558400	Strong transcription	HepG2	liver
31	chr7:116549800-116559000	Strong transcription	Placenta	Placenta
32	chr7:116549800-116559000	Strong transcription	Dnd41	blood
33	chr7:116549800-116559000	Strong transcription	K562	blood
34	chr7:116549800-116559200	Strong transcription	Osteobl	bone
35	chr7:116550000-116558000	Strong transcription	Fetal Intestine Large	intestine
36	chr7:116550000-116559000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:116550000-116559400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:116550000-116559600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:116550000-116560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:116550000-116562400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:116550200-116558400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:116550400-116558200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:116550800-116558000	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:116551000-116558200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:116551000-116559400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:116551200-116555600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:116551200-116555600	Strong transcription	Brain Angular Gyrus	brain
48	chr7:116551200-116558800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:116551200-116559200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:116551400-116559600	Strong transcription	GM12878-XiMat	blood

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