Variant report

Variant	rs10107916
Chromosome Location	chr8:42695296-42695297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42693857..42696163-chr8:42704938..42707697,2	K562	blood:
2	chr8:42695291..42700486-chr8:42749376..42753818,20	K562	blood:
3	chr8:42692950..42696104-chr8:42696128..42701331,6	K562	blood:
4	chr8:42694022..42696039-chr8:42911076..42913234,2	K562	blood:
5	chr8:42690843..42692420-chr8:42694647..42697217,2	MCF-7	breast:
6	chr8:42692533..42696039-chr8:42910546..42913234,3	K562	blood:
7	chr8:42685435..42688953-chr8:42689231..42695334,5	K562	blood:

Variant related genes	Relation type
ENSG00000168522	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000168172	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10087388	0.95[ASN][1000 genomes]
rs10107370	0.81[EUR][1000 genomes]
rs1081884	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1081885	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1081886	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13261180	0.86[EUR][1000 genomes]
rs1620525	0.81[EUR][1000 genomes]
rs1625050	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1648119	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1648120	0.85[AMR][1000 genomes]
rs2042674	0.81[EUR][1000 genomes]
rs28539345	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28688473	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6986338	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773069	0.90[ASN][1000 genomes]
rs773070	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs773071	0.87[ASN][1000 genomes]
rs773072	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7812948	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815800	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7825957	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7831069	0.97[ASN][1000 genomes]
rs7835435	0.95[ASN][1000 genomes]
rs7839894	0.84[ASN][1000 genomes]
rs7841832	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42670000-42697400	Weak transcription	Right Ventricle	heart
2	chr8:42678400-42696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:42679600-42697400	Weak transcription	Aorta	Aorta
4	chr8:42684200-42696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:42686800-42696800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:42687000-42696600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:42687200-42696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:42687200-42696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:42687600-42696400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:42688200-42696800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:42688600-42697600	Weak transcription	Spleen	Spleen
12	chr8:42688800-42696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:42688800-42697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:42689200-42696600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:42689200-42696800	Weak transcription	Fetal Heart	heart
16	chr8:42689400-42696800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:42689400-42696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:42689600-42696400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:42690000-42695600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:42690200-42696600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:42690400-42697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:42690600-42696400	Weak transcription	Fetal Brain Male	brain
23	chr8:42690600-42696400	Weak transcription	HMEC	breast
24	chr8:42690600-42696800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:42690800-42696200	Weak transcription	K562	blood
26	chr8:42690800-42696600	Weak transcription	NHEK	skin
27	chr8:42690800-42696800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:42690800-42697200	Weak transcription	Colonic Mucosa	Colon
29	chr8:42690800-42697600	Weak transcription	Esophagus	oesophagus
30	chr8:42690800-42697600	Weak transcription	Small Intestine	intestine
31	chr8:42691000-42696600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:42691200-42695800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:42691600-42696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:42691600-42696800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:42691600-42697200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:42691800-42696400	Weak transcription	Psoas Muscle	Psoas
37	chr8:42691800-42697000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:42692000-42696600	Weak transcription	Brain Anterior Caudate	brain
39	chr8:42692000-42697600	Weak transcription	Lung	lung
40	chr8:42692200-42696800	Weak transcription	Primary B cells from cord blood	blood
41	chr8:42692400-42696400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:42692600-42695400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:42692800-42696200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:42693000-42695400	Strong transcription	Thymus	Thymus
45	chr8:42693200-42695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:42693200-42695400	Strong transcription	NHLF	lung
47	chr8:42693200-42696000	Strong transcription	Fetal Intestine Small	intestine
48	chr8:42693400-42696600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:42693400-42696600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:42693400-42696600	Weak transcription	Muscle Satellite Cultured Cells	--

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