Variant report

Variant	rs539183653
Chromosome Location	chr9:95945403-95945404
allele	C/T
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:5)
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	RFX5	chr9:95945158-95945404	HepG2	liver:	n/a	n/a
2	MXI1	chr9:95945228-95947541	SK-N-SH	brain:	n/a	n/a
3	FOXA1	chr9:95944918-95945424	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95611802..95614664-chr9:95945185..95946709,2	MCF-7	breast:
2	chr9:95945010..95947116-chr9:96042384..96044882,2	MCF-7	breast:
3	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
4	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:
5	chr9:95943290..95945540-chr9:95952949..95954790,2	K562	blood:

No data

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000223446	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3494114	chr9:95945281-95948679	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3494115	chr9:95945281-95948679	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95943000-95945600	Weak transcription	Esophagus	oesophagus
2	chr9:95943000-95945600	Enhancers	Right Ventricle	heart
3	chr9:95944000-95945800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr9:95944200-95945800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:95944200-95946000	Enhancers	Left Ventricle	heart
6	chr9:95944200-95946000	Enhancers	Pancreas	Pancrea
7	chr9:95944400-95945800	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr9:95944400-95945800	Enhancers	Stomach Smooth Muscle	stomach
9	chr9:95944400-95946200	Enhancers	Gastric	stomach
10	chr9:95944600-95945600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:95944600-95945600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:95944800-95945600	Bivalent Enhancer	HepG2	liver
13	chr9:95944800-95945800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr9:95944800-95945800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr9:95944800-95946000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:95945000-95945800	Enhancers	Brain Germinal Matrix	brain
17	chr9:95945000-95945800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr9:95945000-95945800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:95945000-95946000	Weak transcription	Right Atrium	heart
20	chr9:95945200-95945600	Weak transcription	Psoas Muscle	Psoas
21	chr9:95945200-95945800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr9:95945200-95945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:95945200-95945800	Enhancers	Colon Smooth Muscle	Colon
24	chr9:95945200-95945800	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr9:95945200-95945800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr9:95945400-95945600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr9:95945400-95945600	Enhancers	Fetal Brain Female	brain
28	chr9:95945400-95945800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr9:95945400-95945800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr9:95945400-95945800	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr9:95945400-95946000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:95945400-95946000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr9:95945400-95946000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr9:95945400-95946000	Enhancers	Spleen	Spleen
35	chr9:95945400-95946200	Enhancers	Fetal Heart	heart

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