Variant report

Variant	rs375444010
Chromosome Location	chr9:101569312-101569313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr9:101569226-101569325	K562	blood:	n/a	n/a
2	CTCF	chr9:101568510-101570694	A549	lung:	n/a	chr9:101568822-101568843 chr9:101568820-101568838
3	JUND	chr9:101569195-101569358	K562	blood:	n/a	n/a
4	NR2F2	chr9:101569198-101569926	K562	blood:	n/a	n/a
5	E2F6	chr9:101569085-101570359	K562	blood:	n/a	chr9:101569821-101569831
6	BHLHE40	chr9:101569104-101569848	K562	blood:	n/a	n/a
7	MAX	chr9:101569219-101569680	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr9:101569214-101569504	K562	blood:	n/a	n/a
9	GATA3	chr9:101569190-101570151	MCF-7	breast:	n/a	n/a
10	E2F6	chr9:101569170-101569685	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr9:101569272-101569326	GM12878	blood:	n/a	n/a
12	MAX	chr9:101569240-101569573	K562	blood:	n/a	n/a
13	CTCF	chr9:101569240-101569390	AG04450	lung:	n/a	n/a
14	MAX	chr9:101569097-101570259	K562	blood:	n/a	n/a
15	SIN3AK20	chr9:101569301-101569986	MCF-7	breast:	n/a	n/a
16	MAX	chr9:101569102-101570463	K562	blood:	n/a	n/a
17	CBX3	chr9:101569209-101569863	K562	blood:	n/a	n/a
18	E2F6	chr9:101569298-101569566	K562	blood:	n/a	n/a
19	NR2F2	chr9:101569172-101570167	MCF-7	breast:	n/a	n/a
20	MAX	chr9:101569231-101570525	A549	lung:	n/a	n/a
21	GATA3	chr9:101569263-101570460	MCF-7	breast:	n/a	n/a
22	MAX	chr9:101569253-101570453	MCF-7	breast:	n/a	n/a
23	TEAD4	chr9:101568999-101570094	K562	blood:	n/a	n/a
24	MAX	chr9:101569268-101570466	H1-hESC	embryonic stem cell:	n/a	n/a
25	GATA3	chr9:101569285-101569795	MCF-7	breast:	n/a	n/a
26	E2F6	chr9:101569182-101569631	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101568546..101571235-chr9:101609367..101611059,3	MCF-7	breast:
2	chr9:101568879..101571340-chr9:101705382..101708339,2	K562	blood:
3	chr9:101567740..101569488-chr9:101580448..101582310,2	K562	blood:
4	chr9:101556573..101560424-chr9:101566029..101574080,12	MCF-7	breast:
5	chr9:101569010..101571000-chr9:101705834..101707895,2	MCF-7	breast:
6	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
7	chr9:101551293..101553847-chr9:101568036..101571328,4	K562	blood:
8	chr9:101555483..101562112-chr9:101568669..101573087,9	K562	blood:
9	chr9:101557242..101560519-chr9:101566443..101572716,8	MCF-7	breast:
10	chr9:101550225..101553756-chr9:101569289..101571539,3	MCF-7	breast:

No data

Variant related genes	Relation type
GALNT12	TF binding region
ENSG00000270412	Chromatin interaction
ENSG00000204291	Chromatin interaction
ENSG00000165138	Chromatin interaction
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3410897	chr9:101569181-101571179	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101559600-101569600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:101562600-101569400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:101567400-101569400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:101567400-101569400	Enhancers	Fetal Intestine Small	intestine
5	chr9:101567400-101569400	Enhancers	K562	blood
6	chr9:101567400-101569600	Enhancers	HMEC	breast
7	chr9:101567600-101569400	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:101567600-101569400	Enhancers	Esophagus	oesophagus
9	chr9:101567600-101569400	Enhancers	Fetal Intestine Large	intestine
10	chr9:101567600-101569600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:101567600-101569600	Enhancers	Gastric	stomach
12	chr9:101567600-101569600	Enhancers	NHEK	skin
13	chr9:101567600-101570000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:101567800-101569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:101567800-101569400	Weak transcription	Right Ventricle	heart
16	chr9:101567800-101569400	Enhancers	Stomach Mucosa	stomach
17	chr9:101567800-101569800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:101567800-101569800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr9:101568000-101569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:101568200-101569800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:101568400-101570600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr9:101568600-101569400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:101568800-101569800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:101569000-101569400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr9:101569000-101569400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr9:101569000-101569400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr9:101569000-101569400	Enhancers	Brain Cingulate Gyrus	brain
28	chr9:101569000-101569400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:101569000-101569400	Enhancers	Brain Substantia Nigra	brain
30	chr9:101569000-101569400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr9:101569000-101569600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:101569000-101569600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:101569000-101569600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:101569000-101569600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr9:101569000-101569600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr9:101569000-101569600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr9:101569000-101569600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr9:101569000-101569600	Bivalent Enhancer	NHLF	lung
39	chr9:101569000-101569800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:101569000-101570400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr9:101569200-101569400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr9:101569200-101569400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:101569200-101569400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:101569200-101569400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr9:101569200-101569400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr9:101569200-101569400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:101569200-101569400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr9:101569200-101569400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr9:101569200-101569400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr9:101569200-101569400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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