Variant report

Variant	rs9908415
Chromosome Location	chr17:19914039-19914040
allele	A/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	IRF1	chr17:19913352-19914765	K562	blood:	n/a	chr17:19913823-19913839
2	CTCF	chr17:19911508-19914638	A549	lung:	n/a	chr17:19912622-19912631 chr17:19912985-19912998 chr17:19912998-19913011 chr17:19912617-19912633 chr17:19912019-19912028 chr17:19912619-19912629 chr17:19912616-19912634
3	GATA1	chr17:19912265-19914771	PBDE	blood:	n/a	chr17:19913659-19913676 chr17:19912495-19912503 chr17:19912493-19912505
4	REST	chr17:19911784-19914244	A549	lung:	n/a	chr17:19912120-19912133 chr17:19913349-19913362 chr17:19913340-19913353
5	ARID3A	chr17:19913458-19914684	K562	blood:	n/a	n/a
6	BCL3	chr17:19912998-19914071	A549	lung:	n/a	chr17:19913312-19913325
7	CTCF	chr17:19913215-19914040	A549	lung:	n/a	n/a
8	TCF12	chr17:19911526-19914125	A549	lung:	n/a	n/a
9	TAL1	chr17:19913207-19914177	K562	blood:	n/a	chr17:19913659-19913677
10	ZNF263	chr17:19911453-19914279	HEK293-T-REx	kidney:	n/a	chr17:19913782-19913791 chr17:19913411-19913420 chr17:19913012-19913021 chr17:19913789-19913798
11	CUX1	chr17:19913446-19914407	K562	blood:	n/a	n/a
12	ZNF384	chr17:19912480-19914103	K562	blood:	n/a	n/a
13	EP300	chr17:19913467-19914553	K562	blood:	n/a	n/a
14	TRIM28	chr17:19913373-19914042	K562	blood:	n/a	n/a
15	GATA1	chr17:19913303-19914173	K562	blood:	n/a	chr17:19913659-19913676
16	ZNF274	chr17:19913137-19914410	K562	blood:	n/a	n/a
17	JUND	chr17:19913221-19914279	K562	blood:	n/a	chr17:19913433-19913442
18	MAFK	chr17:19913484-19914092	K562	blood:	n/a	n/a
19	EP300	chr17:19913262-19914209	K562	blood:	n/a	chr17:19913343-19913359 chr17:19913458-19913472 chr17:19913460-19913474 chr17:19913459-19913473
20	CEBPD	chr17:19913385-19914046	K562	blood:	n/a	n/a
21	POLR2A	chr17:19912149-19914655	PBDE	blood:	n/a	n/a
22	MAX	chr17:19911533-19914165	A549	lung:	n/a	chr17:19912536-19912546
23	IRF1	chr17:19913160-19914351	K562	blood:	n/a	chr17:19913823-19913839
24	POLR2A	chr17:19913057-19914055	K562	blood:	n/a	n/a
25	HCFC1	chr17:19911771-19914635	Hela-S3	cervix:	n/a	n/a
26	TBL1XR1	chr17:19913432-19914066	K562	blood:	n/a	n/a
27	SIN3AK20	chr17:19913066-19914046	A549	lung:	n/a	n/a
28	KAP1	chr17:19911720-19914314	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19881019..19882535-chr17:19912703..19915442,2	K562	blood:
2	chr17:19913353..19915145-chr17:20008243..20011168,2	K562	blood:
3	chr17:19913275..19914049-chr17:19998274..19999008,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261033	TF binding region
ENSG00000108599	Chromatin interaction
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11867646	0.81[ASN][1000 genomes]
rs11867652	0.81[ASN][1000 genomes]
rs16960545	1.00[EUR][1000 genomes]
rs16960602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28424266	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28581607	1.00[EUR][1000 genomes]
rs28653561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28713561	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28767032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28830504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28865331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6587207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6587212	0.90[ASN][1000 genomes]
rs7207459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7208033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7210076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7210751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7214107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7215639	1.00[EUR][1000 genomes]
rs7215769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7217862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7217868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7217928	1.00[EUR][1000 genomes]
rs7218251	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7219153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7219487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219688	0.81[ASN][1000 genomes]
rs7220490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7221669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7223323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7224373	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7224419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224713	1.00[EUR][1000 genomes]
rs7224875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068488	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8071670	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079487	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8082671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9889938	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9890105	1.00[AMR][1000 genomes]
rs9891008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9892175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9892271	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893185	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9893296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9895556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9896387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9896499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896633	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9896641	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9898618	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9900393	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9900441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9900510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9902663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903631	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9904059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9909011	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9909012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9909242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9909544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9911408	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9911872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912648	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9913858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9914429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9915039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9915413	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3382860	chr17:19894909-19918588	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19911800-19914200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:19911800-19914600	Active TSS	Brain Angular Gyrus	brain
3	chr17:19912000-19914600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr17:19912000-19914600	Active TSS	Ovary	ovary
5	chr17:19912200-19914200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr17:19912200-19914400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:19912200-19914600	Active TSS	Brain Hippocampus Middle	brain
8	chr17:19912200-19916200	Active TSS	K562	blood
9	chr17:19913600-19914200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr17:19913600-19914200	Flanking Active TSS	Hela-S3	cervix
11	chr17:19913600-19914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:19913600-19914600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:19913800-19914200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr17:19913800-19914200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr17:19913800-19914200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr17:19913800-19914200	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr17:19913800-19914200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr17:19913800-19914200	Bivalent Enhancer	Fetal Brain Female	brain
19	chr17:19913800-19919400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:19913800-19921200	Weak transcription	Aorta	Aorta
21	chr17:19914000-19914200	Enhancers	Adipose Nuclei	Adipose
22	chr17:19914000-19914200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr17:19914000-19914400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr17:19914000-19914600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr17:19914000-19914600	Flanking Active TSS	A549	lung
26	chr17:19914000-19915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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