Variant report

Variant	rs371590499
Chromosome Location	chr17:37824838-37824839
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37778895..37779929-chr17:37824753..37825581,4	K562	blood:
2	chr17:37820269..37822636-chr17:37824547..37827418,2	MCF-7	breast:
3	chr17:37820932..37826284-chr17:37838504..37843351,7	K562	blood:
4	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:
5	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
6	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
7	chr17:37809503..37812375-chr17:37822536..37826640,4	K562	blood:
8	chr17:37702516..37704166-chr17:37823518..37825070,2	K562	blood:
9	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141741	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	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
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv908215	chr17:37818561-37834541	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3377948	chr17:37823251-37825999	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37819200-37825200	Enhancers	Liver	Liver
2	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
3	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
4	chr17:37822000-37825200	Enhancers	Lung	lung
5	chr17:37823200-37825200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
6	chr17:37823400-37825000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:37823400-37825200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:37823600-37825000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr17:37823600-37825000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr17:37823600-37825000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr17:37823600-37825000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:37823600-37825000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:37823600-37825200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:37823600-37825200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:37823600-37825200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr17:37823800-37825000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr17:37823800-37825000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37823800-37825000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:37823800-37825000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:37823800-37825000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr17:37823800-37825000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr17:37823800-37825200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr17:37823800-37825200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr17:37823800-37825200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:37823800-37825200	Active TSS	Brain Anterior Caudate	brain
29	chr17:37823800-37825200	Bivalent Enhancer	Fetal Thymus	thymus
30	chr17:37824000-37825000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:37824000-37825000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:37824000-37825000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:37824000-37825000	Enhancers	Fetal Brain Male	brain
34	chr17:37824000-37825000	Flanking Active TSS	Ovary	ovary
35	chr17:37824000-37825200	Bivalent Enhancer	Spleen	Spleen
36	chr17:37824200-37825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:37824200-37825000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:37824200-37825000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr17:37824200-37825000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr17:37824200-37825200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:37824400-37825000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:37824400-37825000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:37824400-37825000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr17:37824400-37825000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr17:37824400-37825000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr17:37824400-37825000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr17:37824400-37825000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr17:37824400-37825000	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr17:37824400-37825000	Active TSS	A549	lung
50	chr17:37824400-37825200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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