Variant report

Variant	rs567116661
Chromosome Location	chr17:37849916-37849917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37847911..37850678-chr17:37853588..37855984,2	K562	blood:
2	chr17:37775565..37777300-chr17:37849903..37852846,2	K562	blood:
3	chr17:37842900..37846348-chr17:37848501..37850475,3	K562	blood:

Variant related genes	Relation type
ENSG00000141736	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000161395	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv274928	chr17:37848591-37851632	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37845000-37856000	Weak transcription	Lung	lung
2	chr17:37845200-37854600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:37845200-37854600	Weak transcription	Brain Hippocampus Middle	brain
4	chr17:37845400-37850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:37845400-37850800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:37845400-37850800	Weak transcription	Fetal Kidney	kidney
7	chr17:37845400-37850800	Weak transcription	Fetal Stomach	stomach
8	chr17:37845400-37851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:37845400-37851000	Weak transcription	Colonic Mucosa	Colon
10	chr17:37845400-37851000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:37845400-37851200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:37845400-37851600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:37845400-37854800	Weak transcription	Placenta	Placenta
14	chr17:37845400-37855000	Weak transcription	Brain Substantia Nigra	brain
15	chr17:37845400-37855400	Weak transcription	Left Ventricle	heart
16	chr17:37845400-37855800	Weak transcription	Aorta	Aorta
17	chr17:37845600-37850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37845600-37850800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:37845600-37851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:37845600-37851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:37845600-37851000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:37845600-37851200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:37845600-37851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:37845600-37851200	Weak transcription	Fetal Lung	lung
25	chr17:37845600-37851400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:37845600-37851400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:37845600-37851400	Weak transcription	Stomach Mucosa	stomach
28	chr17:37845600-37852000	Weak transcription	Pancreas	Pancrea
29	chr17:37845600-37852200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:37845600-37852800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:37845600-37853400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:37845600-37854600	Weak transcription	Primary B cells from cord blood	blood
33	chr17:37845600-37855000	Weak transcription	Fetal Brain Female	brain
34	chr17:37845600-37855400	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:37845600-37855800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:37845600-37855800	Weak transcription	Ovary	ovary
37	chr17:37845600-37855800	Weak transcription	Psoas Muscle	Psoas
38	chr17:37845600-37855800	Weak transcription	Right Ventricle	heart
39	chr17:37845600-37855800	Weak transcription	HSMMtube	muscle
40	chr17:37845600-37856000	Weak transcription	Esophagus	oesophagus
41	chr17:37845600-37856000	Weak transcription	Spleen	Spleen
42	chr17:37845800-37850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:37845800-37850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:37845800-37850800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:37845800-37850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:37845800-37850800	Weak transcription	Brain Anterior Caudate	brain
47	chr17:37845800-37850800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:37845800-37851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:37845800-37851000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:37845800-37851000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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