Variant report

Variant	rs72781757
Chromosome Location	chr10:6515300-6515301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6506742..6509620-chr10:6514468..6518206,3	K562	blood:
2	chr10:6505761..6513673-chr10:6513705..6518581,11	K562	blood:
3	chr10:6515152..6516947-chr10:6622919..6625201,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11258586	1.00[ASN][1000 genomes]
rs11258802	1.00[ASN][1000 genomes]
rs12146362	1.00[ASN][1000 genomes]
rs12355507	1.00[ASN][1000 genomes]
rs12358161	1.00[ASN][1000 genomes]
rs17300888	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748095	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510745	1.00[ASN][1000 genomes]
rs56051527	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6602722	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069322	1.00[ASN][1000 genomes]
rs7080157	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7083579	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095942	1.00[ASN][1000 genomes]
rs7096751	1.00[ASN][1000 genomes]
rs72781722	1.00[ASN][1000 genomes]
rs72781739	1.00[ASN][1000 genomes]
rs72781746	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781747	1.00[ASN][1000 genomes]
rs72781754	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72781770	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783703	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6493400-6516200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:6498600-6518800	Weak transcription	Fetal Stomach	stomach
5	chr10:6499000-6527800	Weak transcription	Pancreas	Pancrea
6	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
7	chr10:6501600-6527200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:6502200-6518800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:6503000-6533000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:6503200-6516000	Weak transcription	Brain Angular Gyrus	brain
12	chr10:6504200-6517200	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:6504400-6518200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:6504600-6524200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:6506000-6515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:6506200-6516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:6506200-6516200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:6506200-6520400	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:6507600-6515400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:6509200-6541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:6509800-6517600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:6509800-6533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:6510000-6516000	Weak transcription	Fetal Intestine Large	intestine
24	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:6510400-6516000	Weak transcription	Fetal Intestine Small	intestine
26	chr10:6510800-6516000	Weak transcription	Fetal Kidney	kidney
27	chr10:6512800-6515800	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:6513200-6517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:6513400-6517600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:6514000-6515400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:6514000-6515600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:6514000-6516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:6514000-6540000	Weak transcription	Psoas Muscle	Psoas
34	chr10:6514200-6516000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:6514400-6516000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr10:6514400-6516000	Enhancers	Fetal Thymus	thymus
37	chr10:6514400-6518200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:6514600-6515400	Enhancers	Primary B cells from cord blood	blood
39	chr10:6514600-6515400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr10:6514600-6515400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:6514600-6515600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr10:6514600-6516000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr10:6514600-6516400	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:6514800-6515400	Enhancers	Thymus	Thymus
45	chr10:6514800-6516000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:6514800-6516000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:6514800-6516000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr10:6514800-6516600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr10:6515000-6515400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:6515000-6515400	Enhancers	GM12878-XiMat	blood

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