Variant report

Variant	rs6969272
Chromosome Location	chr7:39726931-39726932
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	chr7:39661595..39664442-chr7:39724184..39727170,2	MCF-7	breast:
2	chr7:39661404..39663086-chr7:39725958..39728030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13228455	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171612	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859480	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35569526	0.88[EUR][1000 genomes]
rs4587238	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57164715	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61070404	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462942	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967563	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973745	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776621	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805581	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39700000-39728200	Weak transcription	Liver	Liver
2	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
3	chr7:39702000-39727400	Weak transcription	Fetal Intestine Large	intestine
4	chr7:39707200-39727200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:39707200-39730000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:39712800-39728400	Weak transcription	Pancreas	Pancrea
7	chr7:39714000-39736800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:39715000-39736600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
10	chr7:39716800-39727000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:39716800-39727000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:39716800-39727200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:39716800-39727400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:39716800-39728400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:39716800-39729200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:39716800-39735600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:39717000-39727400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:39718200-39739800	Weak transcription	Spleen	Spleen
19	chr7:39719000-39727200	Weak transcription	Fetal Brain Female	brain
20	chr7:39719600-39727600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:39719800-39728600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:39720000-39728600	Weak transcription	HepG2	liver
23	chr7:39720200-39728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:39721200-39730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:39721200-39738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:39721400-39727800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:39721400-39730000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:39721400-39735800	Weak transcription	K562	blood
29	chr7:39721800-39736400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:39721800-39736600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:39722000-39727600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:39722000-39737600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:39722800-39727200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:39722800-39727400	Weak transcription	Placenta	Placenta
35	chr7:39722800-39727600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:39722800-39728400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:39722800-39728600	Weak transcription	Lung	lung
38	chr7:39722800-39730000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:39722800-39738400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:39723000-39727000	Weak transcription	NHEK	skin
41	chr7:39723000-39728400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:39723000-39728600	Weak transcription	Gastric	stomach
43	chr7:39723000-39729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:39723000-39731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:39723200-39727000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:39723200-39727200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:39723200-39727600	Weak transcription	Fetal Thymus	thymus
48	chr7:39723200-39728200	Weak transcription	Ovary	ovary
49	chr7:39723200-39730000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:39723200-39730000	Weak transcription	Psoas Muscle	Psoas

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