Variant report

Variant	rs565388216
Chromosome Location	chr17:37782609-37782610
allele	A/G
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	BACH1	chr17:37782605-37782894	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr17:37782370-37782901	K562	blood:	n/a	n/a
3	EGR1	chr17:37782438-37782918	K562	blood:	n/a	chr17:37782588-37782603 chr17:37782589-37782602 chr17:37782590-37782600 chr17:37782589-37782602
4	EGR1	chr17:37782443-37782877	K562	blood:	n/a	chr17:37782588-37782603 chr17:37782589-37782602 chr17:37782590-37782600 chr17:37782589-37782602
5	BHLHE40	chr17:37782250-37782877	K562	blood:	n/a	n/a
6	ZNF263	chr17:37782469-37782768	HEK293-T-REx	kidney:	n/a	chr17:37782576-37782597
7	POLR2A	chr17:37782409-37782710	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr17:37782395-37782872	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37782428..37784390-chr17:37785390..37788111,2	K562	blood:
3	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:
4	chr17:37782244..37782963-chr17:37790351..37790853,2	K562	blood:
5	chr17:37780595..37782911-chr17:37786267..37787886,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R1B	TF binding region
ENSG00000141741	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000131771	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	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	esv3438516	chr17:37782451-37785299	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37775200-37782800	Weak transcription	Right Atrium	heart
2	chr17:37775400-37782800	Weak transcription	Right Ventricle	heart
3	chr17:37778800-37790600	Weak transcription	K562	blood
4	chr17:37780200-37783000	Weak transcription	Ovary	ovary
5	chr17:37780800-37783200	Enhancers	Esophagus	oesophagus
6	chr17:37781200-37783000	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr17:37781400-37782800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:37781400-37783000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:37781600-37782800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:37781600-37782800	Bivalent Enhancer	NHEK	skin
11	chr17:37781600-37783000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:37781800-37783000	Bivalent Enhancer	Fetal Thymus	thymus
13	chr17:37781800-37783000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr17:37782000-37782800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
15	chr17:37782000-37782800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
16	chr17:37782000-37783000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:37782200-37782800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr17:37782200-37783000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr17:37782200-37783000	Bivalent Enhancer	HepG2	liver
20	chr17:37782400-37782800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:37782400-37782800	Bivalent Enhancer	Primary T cells from cord blood	blood
22	chr17:37782400-37782800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr17:37782400-37783000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:37782400-37783000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr17:37782400-37783000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr17:37782400-37783000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr17:37782400-37783000	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr17:37782400-37783200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr17:37782400-37783400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr17:37782400-37783400	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr17:37782400-37783400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr17:37782400-37783600	Enhancers	Gastric	stomach
33	chr17:37782400-37783800	Enhancers	Primary B cells from cord blood	blood
34	chr17:37782400-37784000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr17:37782400-37784400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:37782400-37784600	Active TSS	Brain Angular Gyrus	brain
37	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
38	chr17:37782600-37782800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:37782600-37782800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr17:37782600-37782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:37782600-37782800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr17:37782600-37782800	Flanking Active TSS	Fetal Brain Male	brain
48	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
49	chr17:37782600-37783000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr17:37782600-37783000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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