Variant report

Variant	rs7002441
Chromosome Location	chr8:48396589-48396590
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	chr8:48391175..48393987-chr8:48395475..48396988,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10957074	1.00[YRI][hapmap]
rs11784823	1.00[YRI][hapmap]
rs16926260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2130413	1.00[YRI][hapmap]
rs2130880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2171854	1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2362554	1.00[YRI][hapmap]
rs28749254	1.00[EUR][1000 genomes]
rs34099416	1.00[YRI][hapmap]
rs4498545	1.00[YRI][hapmap]
rs4515550	1.00[EUR][1000 genomes]
rs4873106	1.00[YRI][hapmap]
rs4873368	1.00[YRI][hapmap]
rs4873390	1.00[EUR][1000 genomes]
rs4873477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992255	0.81[ASN][1000 genomes]
rs729228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7841467	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7843066	0.81[ASN][1000 genomes]
rs876915	1.00[YRI][hapmap]
rs902619	1.00[YRI][hapmap]

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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48384600-48396800	Weak transcription	Fetal Brain Male	brain
3	chr8:48385000-48397000	Weak transcription	Colonic Mucosa	Colon
4	chr8:48389000-48396800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:48389200-48397000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:48390800-48396800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:48391200-48396600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:48391200-48397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:48391200-48397000	Weak transcription	Gastric	stomach
10	chr8:48391200-48399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:48392200-48396600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:48392200-48396800	Weak transcription	Fetal Thymus	thymus
13	chr8:48392200-48398400	Weak transcription	Brain Substantia Nigra	brain
14	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:48392400-48396600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:48392400-48396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:48392400-48396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:48392400-48397400	Weak transcription	Esophagus	oesophagus
19	chr8:48392400-48398600	Weak transcription	Right Ventricle	heart
20	chr8:48392600-48397000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:48392600-48402000	Weak transcription	HepG2	liver
22	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:48392800-48396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:48393000-48397400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:48393400-48396800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:48393400-48397000	Weak transcription	Aorta	Aorta
27	chr8:48393400-48397400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:48393400-48398800	Weak transcription	K562	blood
29	chr8:48393400-48400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:48393400-48410400	Weak transcription	Ovary	ovary
31	chr8:48393600-48396600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:48393600-48396600	Weak transcription	NHEK	skin
33	chr8:48393600-48396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:48393600-48396800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:48393600-48396800	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:48393600-48397000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:48393600-48397400	Weak transcription	NH-A	brain
38	chr8:48393600-48398600	Weak transcription	Fetal Heart	heart
39	chr8:48393600-48399000	Weak transcription	HMEC	breast
40	chr8:48393800-48396600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:48393800-48396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:48393800-48396800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:48393800-48396800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:48393800-48396800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:48393800-48396800	Weak transcription	Fetal Stomach	stomach
46	chr8:48393800-48397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:48393800-48397000	Weak transcription	Fetal Kidney	kidney
48	chr8:48393800-48397400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:48393800-48398200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:48393800-48398200	Weak transcription	Rectal Mucosa Donor 31	rectum

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