Variant report

Variant	rs62433384
Chromosome Location	chr7:8028550-8028551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:8026444..8027944-chr7:8028522..8030290,2	MCF-7	breast:
2	chr7:8016338..8018811-chr7:8026553..8029436,2	MCF-7	breast:
3	chr7:8008849..8010688-chr7:8026210..8029126,2	K562	blood:
4	chr7:8007272..8010688-chr7:8026210..8029126,4	K562	blood:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10236054	0.81[AMR][1000 genomes]
rs16872488	0.87[AMR][1000 genomes]
rs17141597	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17141865	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17141876	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17142053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17142255	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17142349	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17142477	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17142679	0.92[AMR][1000 genomes]
rs17142685	0.92[AMR][1000 genomes]
rs17142716	0.85[AMR][1000 genomes]
rs58145708	0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58348680	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58707745	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59427694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59437461	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59697814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60920460	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61351831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62433385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62433405	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62433406	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62433407	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433408	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62433444	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62433449	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62435365	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62435371	0.91[AMR][1000 genomes]
rs9640055	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8013400-8029000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:8013400-8029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:8014200-8028600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:8015200-8031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:8017800-8029000	Weak transcription	Hela-S3	cervix
7	chr7:8017800-8029600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:8017800-8029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:8018000-8029000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:8019000-8031400	Weak transcription	Primary B cells from cord blood	blood
11	chr7:8019600-8029400	Weak transcription	Adipose Nuclei	Adipose
12	chr7:8021600-8029000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:8022000-8028800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:8024000-8028800	Weak transcription	Small Intestine	intestine
15	chr7:8024000-8029200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:8025000-8029600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:8025000-8031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:8025200-8029000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:8025200-8029200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:8026000-8028600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:8026000-8028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:8026400-8029200	Enhancers	K562	blood
23	chr7:8026400-8031000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:8026600-8029000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:8026600-8029000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:8026600-8029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:8026600-8029400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:8026800-8028600	Enhancers	Primary T cells from cord blood	blood
29	chr7:8026800-8028800	Enhancers	Dnd41	blood
30	chr7:8026800-8029000	Enhancers	Thymus	Thymus
31	chr7:8027600-8029200	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:8027600-8029200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:8027600-8029400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:8027600-8034800	Weak transcription	Fetal Thymus	thymus
35	chr7:8027800-8029000	Enhancers	GM12878-XiMat	blood
36	chr7:8027800-8029400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:8028000-8029200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:8028200-8029200	Enhancers	Fetal Heart	heart
39	chr7:8028400-8028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:8028400-8028800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:8028400-8029400	Enhancers	Liver	Liver

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