Variant report

Variant	rs542106523
Chromosome Location	chr17:37783451-37783452
allele	C/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	ZBTB7A	chr17:37782860-37783976	ECC-1	luminal epithelium:	n/a	chr17:37783015-37783023 chr17:37783444-37783453 chr17:37783016-37783024
2	ZBTB7A	chr17:37782934-37783617	ECC-1	luminal epithelium:	n/a	chr17:37783015-37783023 chr17:37783444-37783453 chr17:37783016-37783024
3	ZNF143	chr17:37782742-37783475	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr17:37782665-37783544	H1-hESC	embryonic stem cell:	n/a	chr17:37783451-37783462

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	chr17:37682088..37684502-chr17:37782691..37785037,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R1B	TF binding region
ENSG00000167258	Chromatin interaction
ENSG00000141741	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37778800-37790600	Weak transcription	K562	blood
2	chr17:37782400-37783600	Enhancers	Gastric	stomach
3	chr17:37782400-37783800	Enhancers	Primary B cells from cord blood	blood
4	chr17:37782400-37784000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:37782400-37784400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:37782400-37784600	Active TSS	Brain Angular Gyrus	brain
7	chr17:37782600-37783600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr17:37782600-37783600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr17:37782600-37783600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:37782600-37783600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr17:37782600-37783800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:37782600-37783800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:37782600-37783800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:37782600-37784000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:37782600-37784200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr17:37782600-37784200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:37782600-37784200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr17:37782600-37784600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
19	chr17:37782600-37784600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr17:37782800-37783600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:37782800-37783600	Flanking Bivalent TSS/Enh	NHEK	skin
22	chr17:37782800-37783800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr17:37782800-37783800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr17:37782800-37784000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr17:37782800-37784000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr17:37782800-37784000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:37782800-37784000	Active TSS	Right Atrium	heart
28	chr17:37782800-37784200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr17:37782800-37784200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr17:37782800-37784400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr17:37782800-37785200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr17:37783000-37783600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
41	chr17:37783000-37783600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr17:37783000-37783800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr17:37783000-37783800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:37783000-37783800	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr17:37783000-37783800	Flanking Active TSS	Right Ventricle	heart
46	chr17:37783000-37783800	Bivalent/Poised TSS	HSMM	muscle
47	chr17:37783000-37784000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr17:37783000-37784000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:37783000-37784000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr17:37783000-37784000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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