Variant report

Variant	rs9914323
Chromosome Location	chr17:19770198-19770199
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	POLR2A	chr17:19770047-19771566	A549	lung:	n/a	n/a
2	MAX	chr17:19770097-19771550	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr17:19770060-19770210	HEEpiC	esophagus:	n/a	n/a
4	JUND	chr17:19770067-19771550	A549	lung:	n/a	chr17:19770760-19770769
5	MAZ	chr17:19769994-19770556	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:19770126-19771589	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr17:19770149-19770992	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:19770165-19770640	PFSK-1	brain:	n/a	n/a
9	TFAP2C	chr17:19769847-19770669	Hela-S3	cervix:	n/a	chr17:19770199-19770214
10	POLR2A	chr17:19770123-19770704	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr17:19769869-19771551	MCF10A-Er-Src	breast:	n/a	n/a
12	ELF1	chr17:19770068-19771543	GM12878	blood:	n/a	chr17:19770936-19770948 chr17:19770968-19770980 chr17:19771201-19771210 chr17:19771397-19771409 chr17:19771003-19771012
13	MAX	chr17:19770181-19771535	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr17:19770188-19771569	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr17:19770063-19771490	ECC-1	luminal epithelium:	n/a	n/a
16	GTF2F1	chr17:19769799-19770480	Hela-S3	cervix:	n/a	n/a
17	ZBTB7A	chr17:19769999-19770870	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr17:19770180-19770330	WI-38	lung:	n/a	n/a
19	POLR2A	chr17:19770074-19771622	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr17:19770080-19770230	GM12865	blood:	n/a	n/a
21	BRCA1	chr17:19769827-19770473	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr17:19769762-19770632	A549	lung:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
23	POLR2A	chr17:19770153-19771483	GM18505	blood:	n/a	n/a
24	POLR2A	chr17:19770126-19771423	HEK293	kidney:	n/a	n/a
25	ZKSCAN1	chr17:19770180-19770451	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr17:19769785-19770202	ECC-1	luminal epithelium:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
27	MAFK	chr17:19769938-19770450	Hela-S3	cervix:	n/a	n/a
28	EP300	chr17:19770054-19770775	A549	lung:	n/a	chr17:19770761-19770770
29	CTCF	chr17:19770160-19770310	GM12864	blood:	n/a	n/a
30	SIN3AK20	chr17:19769863-19770767	A549	lung:	n/a	n/a
31	MAX	chr17:19770192-19771596	MCF-7	breast:	n/a	n/a
32	RCOR1	chr17:19769823-19770610	Hela-S3	cervix:	n/a	n/a
33	CREB1	chr17:19770164-19771597	A549	lung:	n/a	n/a
34	MTA3	chr17:19770159-19770660	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:19770163-19771708	H1-neurons	neurons:	n/a	n/a
36	YY1	chr17:19770139-19770790	A549	lung:	n/a	chr17:19770764-19770778 chr17:19770731-19770745
37	POLR2A	chr17:19770192-19771381	GM12891	blood:	n/a	n/a
38	MYC	chr17:19769773-19771389	MCF10A-Er-Src	breast:	n/a	n/a
39	HDAC2	chr17:19769959-19770707	MCF-7	breast:	n/a	n/a
40	TCF12	chr17:19769721-19771998	A549	lung:	n/a	n/a
41	TAF1	chr17:19770167-19770816	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr17:19770157-19771511	PBDE	blood:	n/a	n/a
43	E2F6	chr17:19770040-19771795	H1-hESC	embryonic stem cell:	n/a	chr17:19770963-19770973 chr17:19770882-19770897 chr17:19770733-19770742
44	CTCF	chr17:19769654-19772275	A549	lung:	n/a	chr17:19771337-19771350 chr17:19771299-19771312 chr17:19770938-19770951 chr17:19771520-19771533 chr17:19771481-19771494
45	BCL3	chr17:19770070-19770837	A549	lung:	n/a	chr17:19770760-19770773
46	SP1	chr17:19769788-19770781	A549	lung:	n/a	n/a
47	E2F6	chr17:19769944-19771726	A549	lung:	n/a	chr17:19770963-19770973 chr17:19770882-19770897 chr17:19770733-19770742
48	MAX	chr17:19770003-19771534	HCT-116	colon:	n/a	n/a
49	RAD21	chr17:19770183-19770574	Hela-S3	cervix:	n/a	n/a
50	MAX	chr17:19770085-19771568	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
2	chr17:19769802..19772027-chr17:19799780..19804333,4	MCF-7	breast:
3	chr17:19752348..19754374-chr17:19768940..19771870,2	MCF-7	breast:
4	chr17:19769754..19773058-chr17:19878983..19882883,4	MCF-7	breast:

Variant related genes	Relation type
ULK2	TF binding region
ENSG00000270091	Chromatin interaction
ENSG00000108599	Chromatin interaction
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3371214	chr17:19768660-19773258	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv3402031	chr17:19769585-19772133	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19744200-19770200	Weak transcription	Gastric	stomach
2	chr17:19750800-19770200	Weak transcription	Spleen	Spleen
3	chr17:19763200-19770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:19768600-19771400	Active TSS	GM12878-XiMat	blood
5	chr17:19769000-19771800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:19769200-19771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:19769400-19770200	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr17:19769400-19770400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:19769400-19771400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:19769400-19771400	Active TSS	Brain Anterior Caudate	brain
11	chr17:19769400-19771800	Active TSS	A549	lung
12	chr17:19769600-19770200	Enhancers	Small Intestine	intestine
13	chr17:19769600-19771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:19769800-19770200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:19769800-19770200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:19769800-19770200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:19769800-19770200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr17:19769800-19770200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:19769800-19770200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:19769800-19770200	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr17:19769800-19770200	Flanking Active TSS	Fetal Brain Female	brain
22	chr17:19769800-19770200	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr17:19769800-19770200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr17:19769800-19770200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr17:19769800-19770200	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr17:19769800-19770200	Flanking Active TSS	NHEK	skin
27	chr17:19769800-19770200	Flanking Active TSS	NHLF	lung
28	chr17:19769800-19770200	Flanking Active TSS	Osteobl	bone
29	chr17:19769800-19770400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr17:19769800-19770400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:19769800-19770400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:19769800-19770400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr17:19769800-19770400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:19769800-19770400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr17:19769800-19770400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr17:19769800-19770400	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr17:19769800-19770400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr17:19769800-19770400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr17:19769800-19770400	Flanking Active TSS	Hela-S3	cervix
40	chr17:19769800-19770400	Flanking Active TSS	HSMMtube	muscle
41	chr17:19769800-19770400	Flanking Active TSS	HUVEC	blood vessel
42	chr17:19769800-19770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr17:19769800-19770600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr17:19769800-19770600	Active TSS	Fetal Brain Male	brain
45	chr17:19769800-19770600	Active TSS	Fetal Heart	heart
46	chr17:19769800-19770600	Flanking Active TSS	Placenta	Placenta
47	chr17:19769800-19770800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:19769800-19770800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:19769800-19770800	Flanking Active TSS	HMEC	breast
50	chr17:19769800-19771000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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