Variant report

Variant	rs6969431
Chromosome Location	chr7:8020394-8020395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8020245..8022040-chr7:8025204..8026921,2	K562	blood:
2	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
3	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12702689	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs13222222	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs13223417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13223995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13225545	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13237185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13239966	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13240739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13242904	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13245917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34059590	0.88[ASN][1000 genomes]
rs34156160	0.84[ASN][1000 genomes]
rs34318095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34475980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34746652	0.88[ASN][1000 genomes]
rs34783749	1.00[EUR][1000 genomes]
rs34955320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35009545	0.84[ASN][1000 genomes]
rs35044198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35108922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35143180	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35171936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35225784	1.00[EUR][1000 genomes]
rs35240411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35394048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35509690	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35567393	0.84[ASN][1000 genomes]
rs35572840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35627160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35630009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35641104	0.81[ASN][1000 genomes]
rs36015287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36022646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36028057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58769447	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71533384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71533385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71533389	1.00[EUR][1000 genomes]
rs71533390	1.00[EUR][1000 genomes]
rs7800750	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7807433	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8010800-8023600	Weak transcription	Psoas Muscle	Psoas
2	chr7:8011400-8023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:8012200-8020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:8012800-8021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:8013400-8029000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:8013400-8029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:8014200-8028600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:8015200-8031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:8015800-8023200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:8016600-8023800	Weak transcription	Small Intestine	intestine
12	chr7:8016600-8026800	Weak transcription	Thymus	Thymus
13	chr7:8016600-8027200	Weak transcription	Fetal Thymus	thymus
14	chr7:8017000-8020400	Enhancers	Fetal Heart	heart
15	chr7:8017000-8020800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr7:8017400-8020400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:8017600-8024600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:8017800-8021000	Weak transcription	Fetal Stomach	stomach
19	chr7:8017800-8021200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:8017800-8023800	Weak transcription	Aorta	Aorta
21	chr7:8017800-8029000	Weak transcription	Hela-S3	cervix
22	chr7:8017800-8029600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:8017800-8029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:8018000-8029000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:8018400-8022000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:8018400-8022600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:8019000-8024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:8019000-8024400	Weak transcription	Osteobl	bone
29	chr7:8019000-8031400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:8019600-8023400	Weak transcription	Liver	Liver
31	chr7:8019600-8024000	Weak transcription	Primary T cells from cord blood	blood
32	chr7:8019600-8029400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:8020000-8020600	Strong transcription	Dnd41	blood
34	chr7:8020000-8023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:8020000-8023200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:8020000-8023600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:8020000-8024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:8020000-8027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:8020200-8020800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:8020200-8021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:8020200-8021400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:8020200-8021600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:8020200-8023600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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