Variant report

Variant	rs12936693
Chromosome Location	chr17:33966410-33966411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33959378..33962063-chr17:33964670..33966856,2	K562	blood:
2	chr17:33950625..33954392-chr17:33964410..33966864,3	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11650225	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656872	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936539	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939138	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939481	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940422	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940584	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12943224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945980	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950534	0.91[AFR][1000 genomes]
rs12951703	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606150	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638076	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669281	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670614	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17676508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063751	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34296197	0.82[AFR][1000 genomes]
rs34528380	0.91[AFR][1000 genomes]
rs34874930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396673	0.82[AFR][1000 genomes]
rs35419374	0.91[AFR][1000 genomes]
rs35515868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774966	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872249	0.91[AFR][1000 genomes]
rs4531775	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71381460	1.00[ASN][1000 genomes]
rs71381461	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381463	0.97[EUR][1000 genomes]
rs71381464	0.82[AFR][1000 genomes]
rs71381465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
8	chr17:33933600-33967400	Weak transcription	Gastric	stomach
9	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:33950600-33968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:33951200-33971800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr17:33951400-33970800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:33951400-33973600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
27	chr17:33954800-33967400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:33954800-33968000	Weak transcription	Psoas Muscle	Psoas
29	chr17:33957000-33966600	Weak transcription	Fetal Brain Male	brain
30	chr17:33957200-33967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:33957800-33972600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:33958200-33969200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr17:33958200-33981000	Strong transcription	A549	lung
34	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:33959200-33978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:33959400-33971400	Strong transcription	Osteobl	bone
39	chr17:33959600-33972600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:33960000-33969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:33960000-33973400	Strong transcription	K562	blood
42	chr17:33960000-33973800	Strong transcription	Primary B cells from cord blood	blood
43	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:33960200-33973400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:33960400-33972200	Strong transcription	Liver	Liver
47	chr17:33960400-33972800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:33960400-33975800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:33960600-33966600	Weak transcription	Right Ventricle	heart
50	chr17:33960600-33967000	Strong transcription	Fetal Lung	lung

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