Variant report

Variant	rs10508720
Chromosome Location	chr10:27014467-27014468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27014360..27015711-chr10:27170641..27171581,4	K562	blood:
2	chr10:27007355..27009512-chr10:27013703..27015717,2	K562	blood:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4369307	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402188	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61626572	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67649540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094825	0.80[MEX][hapmap]
rs7096584	0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv1818223	chr10:26999121-27022126	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2761585	chr10:27010701-27026012	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10508720	TPRT	cis	multi-tissue	Pritchard
rs10508720	PDSS1	cis	cerebellum	SCAN
rs10508720	ABI1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
2	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
4	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
6	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:26995400-27023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:26995800-27026600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:26996000-27026600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:26996200-27026200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:26996200-27028000	Weak transcription	Psoas Muscle	Psoas
12	chr10:26996600-27022400	Weak transcription	Brain Angular Gyrus	brain
13	chr10:26996600-27023600	Weak transcription	Fetal Heart	heart
14	chr10:26997200-27022800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:26997200-27024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:26997400-27022400	Weak transcription	Brain Substantia Nigra	brain
17	chr10:26997600-27054400	Weak transcription	Fetal Brain Male	brain
18	chr10:26998000-27022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:26998200-27015000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:26998200-27015400	Weak transcription	Brain Anterior Caudate	brain
21	chr10:26998200-27022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:26999800-27022600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:26999800-27037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:27001000-27031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:27001200-27041200	Strong transcription	Fetal Thymus	thymus
26	chr10:27001800-27041200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:27002200-27015200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:27002200-27017000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:27002200-27021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:27002200-27023400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:27002400-27017200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:27003600-27014600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:27004200-27031200	Weak transcription	Hela-S3	cervix
34	chr10:27004400-27016200	Weak transcription	Fetal Lung	lung
35	chr10:27004400-27022800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:27004600-27014600	Weak transcription	Colonic Mucosa	Colon
37	chr10:27006000-27016000	Weak transcription	HUVEC	blood vessel
38	chr10:27006000-27022200	Strong transcription	Fetal Intestine Small	intestine
39	chr10:27006200-27021000	Weak transcription	Primary B cells from cord blood	blood
40	chr10:27006200-27023800	Weak transcription	NHLF	lung
41	chr10:27006400-27016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:27006400-27017200	Strong transcription	Fetal Intestine Large	intestine
43	chr10:27006800-27016600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:27007800-27041200	Strong transcription	Dnd41	blood
45	chr10:27008600-27015400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr10:27008800-27015000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:27008800-27018600	Strong transcription	GM12878-XiMat	blood
48	chr10:27008800-27022200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr10:27008800-27022800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:27009000-27015000	Strong transcription	Left Ventricle	heart

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