Variant report

Variant	rs189378616
Chromosome Location	chr17:37783220-37783221
allele	C/T
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
5	CTBP2	chr17:37782779-37783417	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFIC	chr17:37782649-37783234	ECC-1	luminal epithelium:	n/a	n/a
7	YY1	chr17:37782740-37783285	H1-hESC	embryonic stem cell:	n/a	chr17:37782927-37782938 chr17:37783151-37783160
8	POLR2A	chr17:37782930-37783411	SK-N-MC	brain:	n/a	n/a
9	HDAC2	chr17:37782705-37783307	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFIC	chr17:37782715-37783282	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3AK20	chr17:37782889-37783413	H1-hESC	embryonic stem cell:	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	chr17:37682088..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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37778800-37790600	Weak transcription	K562	blood
2	chr17:37782400-37783400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr17:37782400-37783400	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr17:37782400-37783400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
5	chr17:37782400-37783600	Enhancers	Gastric	stomach
6	chr17:37782400-37783800	Enhancers	Primary B cells from cord blood	blood
7	chr17:37782400-37784000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:37782400-37784400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:37782400-37784600	Active TSS	Brain Angular Gyrus	brain
10	chr17:37782600-37783400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr17:37782600-37783400	Enhancers	Fetal Heart	heart
12	chr17:37782600-37783400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
13	chr17:37782600-37783400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
14	chr17:37782600-37783400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr17:37782600-37783400	Enhancers	Lung	lung
16	chr17:37782600-37783400	Flanking Active TSS	Pancreas	Pancrea
17	chr17:37782600-37783600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr17:37782600-37783600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr17:37782600-37783600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:37782600-37783600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
21	chr17:37782600-37783800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:37782600-37783800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:37782600-37783800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:37782600-37784000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:37782600-37784200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr17:37782600-37784200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:37782600-37784200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr17:37782600-37784600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
29	chr17:37782600-37784600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr17:37782800-37783400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:37782800-37783400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:37782800-37783400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr17:37782800-37783400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr17:37782800-37783600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:37782800-37783600	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr17:37782800-37783800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr17:37782800-37783800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
38	chr17:37782800-37784000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr17:37782800-37784000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr17:37782800-37784000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:37782800-37784000	Active TSS	Right Atrium	heart
42	chr17:37782800-37784200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr17:37782800-37784200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr17:37782800-37784400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr17:37782800-37785200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr17:37783000-37783400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:37783000-37783400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:37783000-37783400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:37783000-37783400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:37783000-37783400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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