Variant report

Variant	rs6991820
Chromosome Location	chr8:126280595-126280596
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	chr8:126278264..126280998-chr8:126282090..126284615,2	MCF-7	breast:
2	chr8:126279076..126280646-chr8:126347949..126349509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242170	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086862	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10095360	0.92[ASN][1000 genomes]
rs10101690	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10108305	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs10112737	0.84[JPT][hapmap]
rs10956234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956235	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10956236	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900488	0.81[JPT][hapmap]
rs4279612	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4294203	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4339663	0.86[ASN][1000 genomes]
rs4350000	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4464986	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481616	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565472	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs6470346	0.90[ASN][1000 genomes]
rs6985411	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6995986	0.81[JPT][hapmap]
rs7008046	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7011185	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017794	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7812933	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813432	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7843098	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7844459	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7845165	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9297714	0.82[EUR][1000 genomes];0.88[ASN][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:32 , 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	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
5	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:126272800-126283200	Weak transcription	K562	blood
8	chr8:126272800-126283400	Weak transcription	HMEC	breast
9	chr8:126272800-126283600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
12	chr8:126273800-126280600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:126273800-126283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:126275400-126284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:126275600-126283600	Weak transcription	HUVEC	blood vessel
16	chr8:126275600-126284600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:126275600-126285200	Weak transcription	Primary T cells from cord blood	blood
18	chr8:126275600-126286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126275800-126289000	Weak transcription	Dnd41	blood
20	chr8:126276800-126285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:126276800-126286000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:126277000-126285400	Weak transcription	Thymus	Thymus
23	chr8:126277000-126285800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:126278000-126286000	Weak transcription	Fetal Thymus	thymus
25	chr8:126278400-126285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:126279800-126281000	Weak transcription	A549	lung
27	chr8:126279800-126283600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:126280000-126282600	Weak transcription	Psoas Muscle	Psoas
29	chr8:126280000-126282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:126280000-126289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:126280200-126285200	Weak transcription	Right Atrium	heart
32	chr8:126280400-126281200	Enhancers	HUES64 Cell Line	embryonic stem cell

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