Variant report

Variant	rs17816509
Chromosome Location	chr10:27073535-27073536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr10:27073527-27074383	MCF10A-Er-Src	breast:	n/a	chr10:27074124-27074135
2	STAT3	chr10:27073520-27074365	MCF10A-Er-Src	breast:	n/a	chr10:27074124-27074135
3	POLR2A	chr10:27073446-27073739	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27073078..27074935-chr10:27148333..27150643,2	K562	blood:
2	chr10:27070974..27073894-chr10:27148134..27150716,3	MCF-7	breast:
3	chr10:27067079..27070597-chr10:27072640..27074844,4	K562	blood:
4	chr10:27071993..27074236-chr10:27148436..27150093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223027	TF binding region
ENSG00000136754	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10829066	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11015244	0.82[YRI][hapmap]
rs11015257	0.80[AFR][1000 genomes]
rs11015264	0.80[AFR][1000 genomes]
rs11015277	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11015278	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11015282	0.81[AFR][1000 genomes]
rs11015287	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11015290	0.90[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11015297	0.90[AFR][1000 genomes]
rs11015299	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11015303	0.90[AFR][1000 genomes]
rs11015316	0.80[AFR][1000 genomes]
rs11813623	0.80[AFR][1000 genomes]
rs11814449	0.90[AFR][1000 genomes]
rs12220354	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12220461	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12221372	1.00[ASW][hapmap]
rs17816641	0.80[AFR][1000 genomes]
rs1998633	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2148111	0.80[AFR][1000 genomes]
rs3802616	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4749188	0.80[AFR][1000 genomes]
rs4749190	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs4749194	1.00[YRI][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	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
2	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
3	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv6132	chr10:27066081-27075522	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27044800-27082000	Weak transcription	Fetal Lung	lung
2	chr10:27051400-27082000	Weak transcription	Fetal Stomach	stomach
3	chr10:27058000-27079200	Weak transcription	Dnd41	blood
4	chr10:27064600-27074200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr10:27066200-27074600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:27066400-27074000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr10:27066400-27074600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:27066400-27075200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr10:27068400-27079400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:27068600-27074200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:27069200-27078800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:27069400-27079600	Weak transcription	K562	blood
13	chr10:27069800-27075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr10:27069800-27084600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:27070000-27074000	Enhancers	Brain Substantia Nigra	brain
16	chr10:27070200-27076600	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:27070600-27074400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:27070600-27082800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:27070800-27091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:27071000-27073600	Weak transcription	Placenta	Placenta
21	chr10:27071000-27073800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:27071000-27075000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:27071000-27075000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:27071000-27080600	Weak transcription	Fetal Intestine Large	intestine
25	chr10:27071000-27080800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:27071000-27082000	Weak transcription	Fetal Brain Male	brain
27	chr10:27071000-27083800	Weak transcription	Fetal Intestine Small	intestine
28	chr10:27071000-27084600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:27071200-27073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:27071200-27073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:27071200-27073600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:27071200-27073600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:27071200-27073800	Weak transcription	NHLF	lung
34	chr10:27071200-27074000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:27071200-27074600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:27071200-27074600	Weak transcription	Left Ventricle	heart
37	chr10:27071200-27075000	Enhancers	NHEK	skin
38	chr10:27071200-27075600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:27071200-27075600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr10:27071200-27078000	Weak transcription	Psoas Muscle	Psoas
41	chr10:27071200-27078200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:27071200-27079400	Weak transcription	HSMM	muscle
43	chr10:27071200-27079400	Weak transcription	Osteobl	bone
44	chr10:27071200-27079800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:27071200-27080800	Weak transcription	Brain Angular Gyrus	brain
46	chr10:27071200-27082000	Weak transcription	A549	lung
47	chr10:27071200-27089000	Weak transcription	Lung	lung
48	chr10:27071200-27089600	Weak transcription	Spleen	Spleen
49	chr10:27071400-27073600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr10:27071400-27073800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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