Variant report

Variant	rs74112665
Chromosome Location	chr10:6542655-6542656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6542478..6544249-chr10:6551947..6554628,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11258323	1.00[AMR][1000 genomes]
rs56240948	1.00[AMR][1000 genomes]
rs60401620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7089785	1.00[AMR][1000 genomes]
rs735238	1.00[AMR][1000 genomes]
rs74112628	1.00[AMR][1000 genomes]
rs74112632	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112636	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112663	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113512	1.00[AMR][1000 genomes]
rs7922677	1.00[AMR][1000 genomes]
rs943455	1.00[AMR][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5687	chr10:6537209-6556751	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:6517200-6557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:6518200-6556800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:6519200-6544400	Weak transcription	Spleen	Spleen
7	chr10:6526600-6553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:6529000-6546200	Weak transcription	Esophagus	oesophagus
9	chr10:6529000-6552800	Weak transcription	Lung	lung
10	chr10:6530400-6552600	Weak transcription	K562	blood
11	chr10:6533800-6552800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:6534400-6545800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:6535400-6553400	Weak transcription	Gastric	stomach
14	chr10:6536600-6552800	Weak transcription	Fetal Intestine Small	intestine
15	chr10:6537400-6552800	Weak transcription	Fetal Stomach	stomach
16	chr10:6537600-6544200	Weak transcription	Pancreas	Pancrea
17	chr10:6537600-6552600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:6537800-6543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:6537800-6548600	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:6537800-6548800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:6538000-6546800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:6538200-6552800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:6540200-6548800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:6540800-6542800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:6540800-6552200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:6540800-6552800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr10:6540800-6556600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:6541000-6544000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:6541200-6543000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr10:6541200-6544200	Weak transcription	Psoas Muscle	Psoas
31	chr10:6541200-6546600	Strong transcription	Thymus	Thymus
32	chr10:6541400-6542800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:6541400-6542800	Weak transcription	NHEK	skin
34	chr10:6541400-6545400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:6541400-6551000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr10:6541400-6552800	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:6541600-6543800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:6541600-6545200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr10:6541600-6555200	Strong transcription	Primary T cells from cord blood	blood
40	chr10:6541800-6544200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:6541800-6545000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:6541800-6548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:6542000-6542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:6542000-6542800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:6542000-6543000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:6542000-6543000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:6542000-6543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:6542000-6544000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:6542000-6544000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:6542000-6544000	Enhancers	HMEC	breast

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