Variant report

Variant	rs11867497
Chromosome Location	chr17:38490597-38490598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38462397..38466467-chr17:38488057..38492015,4	K562	blood:

Variant related genes	Relation type
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12937995	1.00[MEX][hapmap]
rs28623289	1.00[LWK][hapmap]
rs28742572	1.00[MEX][hapmap]
rs35163502	1.00[MEX][hapmap]
rs35487582	1.00[MEX][hapmap]
rs4135012	1.00[LWK][hapmap]
rs8073063	1.00[LWK][hapmap]
rs9895942	1.00[MEX][hapmap]
rs9913992	1.00[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	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1063310	chr17:38467043-38499351	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1057471	chr17:38467043-38502453	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38479200-38494400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38479400-38491600	Enhancers	Fetal Heart	heart
3	chr17:38479600-38491200	Weak transcription	Fetal Kidney	kidney
4	chr17:38483400-38490800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:38484000-38491600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:38485600-38497200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr17:38486200-38491000	Genic enhancers	Spleen	Spleen
8	chr17:38486200-38492200	Genic enhancers	Fetal Stomach	stomach
9	chr17:38486200-38492400	Enhancers	Left Ventricle	heart
10	chr17:38486200-38492400	Enhancers	Ovary	ovary
11	chr17:38486200-38492600	Enhancers	Stomach Mucosa	stomach
12	chr17:38486600-38491200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:38486600-38491200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:38486600-38491200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:38486800-38492200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:38487000-38491000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:38487000-38494200	Weak transcription	Dnd41	blood
18	chr17:38487200-38491200	Enhancers	Primary hematopoietic stem cells	blood
19	chr17:38487200-38491400	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr17:38487200-38491600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:38487200-38497400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr17:38487600-38492800	Enhancers	Liver	Liver
23	chr17:38487600-38493400	Weak transcription	Fetal Brain Female	brain
24	chr17:38487800-38495600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr17:38488000-38490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:38488000-38492600	Enhancers	Placenta	Placenta
27	chr17:38488200-38497000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:38488400-38491600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:38488600-38490600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:38488800-38492400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:38488800-38492400	Enhancers	Right Ventricle	heart
32	chr17:38489000-38490600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:38489000-38490800	Strong transcription	Fetal Intestine Large	intestine
34	chr17:38489000-38491200	Weak transcription	HMEC	breast
35	chr17:38489000-38491800	Enhancers	Lung	lung
36	chr17:38489000-38492200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:38489000-38492200	Enhancers	Right Atrium	heart
38	chr17:38489000-38492400	Enhancers	Rectal Smooth Muscle	rectum
39	chr17:38489000-38493400	Weak transcription	Fetal Brain Male	brain
40	chr17:38489000-38494000	Weak transcription	Thymus	Thymus
41	chr17:38489000-38496800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:38489000-38497200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:38489200-38490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:38489200-38490600	Weak transcription	Brain Germinal Matrix	brain
45	chr17:38489200-38490600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:38489200-38490600	Weak transcription	HSMM	muscle
47	chr17:38489200-38490800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:38489200-38490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:38489200-38490800	Weak transcription	Brain Substantia Nigra	brain
50	chr17:38489200-38490800	Enhancers	Skeletal Muscle Female	skeletal muscle

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