Variant report

Variant	rs574381917
Chromosome Location	chr17:38598561-38598562
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:38598478-38602583	A549	lung:	n/a	n/a
2	FOSL2	chr17:38598553-38599469	A549	lung:	n/a	chr17:38599373-38599382
3	TCF12	chr17:38598550-38605713	A549	lung:	n/a	chr17:38599080-38599090 chr17:38600404-38600414

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38597471..38599668-chr17:38689776..38691457,2	K562	blood:
3	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
4	chr17:38518063..38521220-chr17:38597683..38601473,5	MCF-7	breast:
5	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
6	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:
7	chr17:38598261..38600683-chr9:136220142..136221734,2	MCF-7	breast:
8	chr17:38456433..38460322-chr17:38596356..38599161,3	MCF-7	breast:
9	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240125	TF binding region
IGFBP4	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000148290	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3442525	chr17:38598451-38601299	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38589600-38598800	Weak transcription	Fetal Intestine Small	intestine
4	chr17:38589800-38598600	Weak transcription	NHDF-Ad	bronchial
5	chr17:38590200-38599000	Weak transcription	Lung	lung
6	chr17:38590400-38598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:38590400-38598800	Weak transcription	Osteobl	bone
8	chr17:38593200-38598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:38593600-38598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:38593800-38598600	Weak transcription	HUVEC	blood vessel
11	chr17:38594000-38598600	Weak transcription	Placenta	Placenta
12	chr17:38594000-38598800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:38594000-38598800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:38594000-38598800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:38594000-38598800	Weak transcription	Fetal Lung	lung
16	chr17:38594000-38598800	Weak transcription	HMEC	breast
17	chr17:38594000-38598800	Weak transcription	NHLF	lung
18	chr17:38594000-38599000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:38594200-38598600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:38594200-38598600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38594200-38598600	Weak transcription	Right Atrium	heart
22	chr17:38594200-38598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:38594200-38598800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:38594200-38598800	Weak transcription	Esophagus	oesophagus
25	chr17:38594200-38598800	Weak transcription	Left Ventricle	heart
26	chr17:38594200-38598800	Weak transcription	Dnd41	blood
27	chr17:38594200-38599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:38594200-38599000	Weak transcription	HSMM	muscle
29	chr17:38594600-38598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:38597200-38598600	Enhancers	A549	lung
31	chr17:38597400-38598800	Enhancers	Colon Smooth Muscle	Colon
32	chr17:38597600-38598600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:38597600-38598800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38597600-38598800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:38597600-38598800	Weak transcription	Fetal Heart	heart
36	chr17:38597600-38599000	Enhancers	Fetal Stomach	stomach
37	chr17:38597600-38599000	Weak transcription	HSMMtube	muscle
38	chr17:38597800-38598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:38597800-38598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:38597800-38598800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:38597800-38598800	Weak transcription	Ovary	ovary
42	chr17:38597800-38598800	Weak transcription	Right Ventricle	heart
43	chr17:38597800-38598800	Weak transcription	K562	blood
44	chr17:38597800-38599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:38597800-38599000	Weak transcription	Primary B cells from cord blood	blood
46	chr17:38597800-38599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:38597800-38599000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:38597800-38599000	Weak transcription	Stomach Mucosa	stomach
49	chr17:38598000-38599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:38598200-38598600	Weak transcription	Primary B cells from peripheral blood	blood

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