Variant report

Variant	rs17081501
Chromosome Location	chr3:51713121-51713122
allele	C/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	POLR2A	chr3:51713049-51713135	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51704201..51711015-chr3:51712254..51717093,7	K562	blood:
2	chr3:51704380..51708267-chr3:51709236..51713754,5	K562	blood:
3	chr3:51425871..51428419-chr3:51712494..51715016,3	K562	blood:
4	chr3:51711799..51714156-chr3:51719027..51720830,2	MCF-7	breast:

Variant related genes	Relation type
TEX264	TF binding region
ENSG00000164081	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs12330534	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13314120	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13321674	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13325153	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.94[YRI][hapmap]
rs13327225	1.00[MEX][hapmap]
rs13433729	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17051799	1.00[AMR][1000 genomes]
rs17051832	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28421789	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452990	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457212	1.00[AMR][1000 genomes]
rs28653367	1.00[AMR][1000 genomes]
rs2883900	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549265	1.00[AMR][1000 genomes]
rs56942057	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59064710	1.00[ASN][1000 genomes]
rs59525691	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60823123	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440245	1.00[ASN][1000 genomes]
rs61737032	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6792143	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6806124	1.00[MEX][hapmap]
rs72951441	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951452	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951485	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953413	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953419	1.00[ASN][1000 genomes]
rs72953421	1.00[ASN][1000 genomes]
rs72953423	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953429	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7627636	1.00[ASN][1000 genomes]
rs904144	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311470	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808940	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9809757	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812682	1.00[ASN][1000 genomes]
rs9815475	1.00[MEX][hapmap]
rs9815684	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9816075	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9824779	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9826664	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9827665	1.00[AMR][1000 genomes]
rs9827917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838994	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839516	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9842066	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846343	1.00[ASN][1000 genomes]
rs9855809	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9857893	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9858497	1.00[AMR][1000 genomes]
rs9864213	1.00[AMR][1000 genomes]
rs9864952	1.00[ASN][1000 genomes]
rs9866513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9866604	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9870147	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875460	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9878564	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9880050	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880909	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881402	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881844	1.00[AMR][1000 genomes]
rs9882601	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9990341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:51706600-51714000	Weak transcription	Right Atrium	heart
4	chr3:51706600-51715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:51706600-51716600	Weak transcription	A549	lung
6	chr3:51706600-51719800	Weak transcription	Psoas Muscle	Psoas
7	chr3:51706600-51721200	Weak transcription	Fetal Brain Male	brain
8	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
10	chr3:51706800-51714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:51706800-51715200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:51706800-51715400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:51706800-51715600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:51707000-51714600	Weak transcription	Hela-S3	cervix
15	chr3:51707000-51715600	Weak transcription	K562	blood
16	chr3:51707600-51714400	Weak transcription	Stomach Mucosa	stomach
17	chr3:51707600-51714600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:51707800-51714800	Weak transcription	Fetal Heart	heart
19	chr3:51707800-51715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:51707800-51716000	Weak transcription	Fetal Kidney	kidney
21	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
22	chr3:51708000-51713200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr3:51708000-51714400	Strong transcription	Fetal Muscle Leg	muscle
24	chr3:51708000-51714800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:51708000-51715600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:51708000-51718600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:51708200-51713800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:51708200-51713800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:51708200-51714000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:51708200-51714200	Strong transcription	Adipose Nuclei	Adipose
31	chr3:51708200-51714800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:51708200-51715400	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr3:51708200-51715400	Genic enhancers	Spleen	Spleen
34	chr3:51708200-51715600	Strong transcription	Fetal Stomach	stomach
35	chr3:51708400-51713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:51708400-51714000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:51708400-51714200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:51708400-51715200	Genic enhancers	Primary T cells from cord blood	blood
39	chr3:51708800-51713200	Strong transcription	Liver	Liver
40	chr3:51708800-51713800	Strong transcription	Primary B cells from cord blood	blood
41	chr3:51708800-51714600	Strong transcription	Thymus	Thymus
42	chr3:51708800-51738800	Strong transcription	Fetal Intestine Large	intestine
43	chr3:51709000-51714200	Strong transcription	Brain Hippocampus Middle	brain
44	chr3:51709400-51713600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr3:51709400-51713600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:51709400-51714600	Strong transcription	Fetal Lung	lung
47	chr3:51709600-51715000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:51709600-51718000	Weak transcription	NHDF-Ad	bronchial
49	chr3:51709800-51713200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:51709800-51714200	Weak transcription	HSMMtube	muscle

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