Variant report

Variant	rs6997329
Chromosome Location	chr8:126274400-126274401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126272501..126275279-chr8:126275432..126278029,2	MCF-7	breast:
2	chr8:126272014..126274936-chr8:126439430..126443589,3	MCF-7	breast:
3	chr4:83481988..83484509-chr8:126272393..126274695,2	MCF-7	breast:
4	chr8:126266479..126269155-chr8:126273088..126274738,2	MCF-7	breast:
5	chr8:126273675..126276572-chr8:126441769..126444596,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000249242	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16900491	0.95[EUR][1000 genomes]
rs16900500	0.89[EUR][1000 genomes]
rs58527250	0.94[EUR][1000 genomes]
rs59099103	0.94[EUR][1000 genomes]
rs6470348	0.92[EUR][1000 genomes]
rs6985382	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002315	0.98[EUR][1000 genomes]
rs73336837	0.92[EUR][1000 genomes]
rs73351278	0.92[EUR][1000 genomes]
rs7831918	0.92[EUR][1000 genomes]
rs7841990	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:126262200-126288200	Weak transcription	Ovary	ovary
4	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
6	chr8:126265600-126274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:126267400-126276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:126267800-126274600	Weak transcription	Primary T cells from cord blood	blood
10	chr8:126267800-126276200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:126271600-126275600	Weak transcription	Psoas Muscle	Psoas
13	chr8:126272200-126276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:126272800-126279600	Weak transcription	A549	lung
15	chr8:126272800-126283200	Weak transcription	K562	blood
16	chr8:126272800-126283400	Weak transcription	HMEC	breast
17	chr8:126272800-126283600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:126273400-126275600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:126273400-126275800	Enhancers	Dnd41	blood
21	chr8:126273600-126275600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:126273600-126279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
24	chr8:126273800-126274800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:126273800-126275600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:126273800-126280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:126273800-126280600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:126273800-126283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:126274000-126275000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:126274000-126275000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:126274000-126275600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:126274000-126275600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:126274000-126275800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:126274000-126275800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:126274000-126275800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:126274000-126276600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:126274000-126277000	Enhancers	Thymus	Thymus
38	chr8:126274000-126278000	Enhancers	Fetal Thymus	thymus
39	chr8:126274200-126274600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:126274200-126275400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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