Variant report

Variant	rs10984613
Chromosome Location	chr9:100742848-100742849
allele	C/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	chr9:100742757-100747832	K562	blood:	n/a	n/a
2	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
3	MYC	chr9:100742770-100744165	K562	blood:	n/a	chr9:100742954-100742964
4	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
5	TBL1XR1	chr9:100742635-100743548	K562	blood:	n/a	n/a
6	CEBPB	chr9:100742749-100743538	K562	blood:	n/a	n/a
7	JUND	chr9:100742649-100743663	K562	blood:	n/a	n/a
8	MAFF	chr9:100742751-100743100	K562	blood:	n/a	chr9:100742949-100742963
9	UBTF	chr9:100742796-100743889	K562	blood:	n/a	n/a
10	MAFK	chr9:100742720-100743209	K562	blood:	n/a	chr9:100742950-100742960 chr9:100742949-100742963 chr9:100742948-100742964
11	RCOR1	chr9:100742568-100744251	K562	blood:	n/a	n/a
12	TBP	chr9:100742551-100747799	K562	blood:	n/a	n/a
13	MAX	chr9:100742770-100743081	K562	blood:	n/a	chr9:100742954-100742964
14	HCFC1	chr9:100742824-100744032	K562	blood:	n/a	n/a
15	MAZ	chr9:100742476-100747973	K562	blood:	n/a	chr9:100747186-100747195 chr9:100747738-100747749 chr9:100745050-100745060 chr9:100747739-100747748 chr9:100747738-100747749 chr9:100745365-100745374 chr9:100747739-100747748 chr9:100742954-100742964 chr9:100747739-100747749 chr9:100747187-100747194 chr9:100747185-100747196 chr9:100745284-100745293 chr9:100746432-100746442 chr9:100745379-100745386 chr9:100747185-100747196 chr9:100747738-100747748 chr9:100747740-100747747 chr9:100745376-100745385
16	YY1	chr9:100742840-100743066	K562	blood:	n/a	n/a
17	POLR2A	chr9:100742845-100742919	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr9:100742588-100743829	K562	blood:	n/a	n/a
19	ZMIZ1	chr9:100742465-100743519	K562	blood:	n/a	n/a
20	MAX	chr9:100742841-100743064	K562	blood:	n/a	chr9:100742954-100742964
21	HEY1	chr9:100742804-100743106	K562	blood:	n/a	n/a
22	JUN	chr9:100741876-100746321	K562	blood:	n/a	chr9:100745695-100745704 chr9:100746200-100746209 chr9:100746025-100746034
23	MYC	chr9:100742261-100744043	K562	blood:	n/a	chr9:100742954-100742964
24	CUX1	chr9:100742675-100743308	K562	blood:	n/a	n/a
25	E2F6	chr9:100742845-100743056	K562	blood:	n/a	n/a
26	CEBPB	chr9:100742756-100743107	K562	blood:	n/a	n/a
27	ARID3A	chr9:100742746-100743343	K562	blood:	n/a	n/a
28	MAX	chr9:100742795-100744032	K562	blood:	n/a	chr9:100742954-100742964
29	POLR2A	chr9:100742759-100748193	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
3	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
4	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
5	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000201830	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000136929	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10984611	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10984626	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10984738	0.82[ASN][1000 genomes]
rs10984772	0.82[ASN][1000 genomes]
rs10984785	0.82[ASN][1000 genomes]
rs10984838	0.82[ASN][1000 genomes]
rs10984858	0.82[ASN][1000 genomes]
rs12237766	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100735800-100744800	Weak transcription	Right Atrium	heart
2	chr9:100736000-100743400	Weak transcription	Dnd41	blood
3	chr9:100740600-100745600	Enhancers	Fetal Brain Male	brain
4	chr9:100740800-100744200	Enhancers	Fetal Brain Female	brain
5	chr9:100740800-100744600	Enhancers	Primary T cells from cord blood	blood
6	chr9:100740800-100744600	Weak transcription	Spleen	Spleen
7	chr9:100741000-100743200	Enhancers	Brain Anterior Caudate	brain
8	chr9:100741000-100743400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:100741000-100743400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:100741000-100743800	Enhancers	Fetal Thymus	thymus
11	chr9:100741000-100744400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:100741200-100744600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:100741400-100744600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr9:100741400-100744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:100741400-100744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:100741400-100744800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr9:100741600-100743800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:100741600-100744200	Enhancers	Thymus	Thymus
19	chr9:100741800-100744600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr9:100742200-100743000	Enhancers	Brain Germinal Matrix	brain
21	chr9:100742200-100743000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:100742200-100744600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:100742200-100744600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:100742200-100744600	Enhancers	Fetal Muscle Leg	muscle
25	chr9:100742400-100743400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:100742400-100743600	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:100742400-100743800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:100742400-100744000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr9:100742400-100744400	Flanking Active TSS	K562	blood
30	chr9:100742400-100744600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:100742400-100744600	Enhancers	HSMMtube	muscle
32	chr9:100742600-100743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:100742600-100743200	Enhancers	NHDF-Ad	bronchial
34	chr9:100742600-100743600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:100742600-100743600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr9:100742600-100743600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:100742600-100743800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:100742600-100743800	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:100742600-100744200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:100742600-100744600	Enhancers	Adipose Nuclei	Adipose
41	chr9:100742600-100744800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:100742600-100744800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:100742600-100744800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:100742800-100743000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr9:100742800-100743200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:100742800-100743400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:100742800-100743600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr9:100742800-100743600	Enhancers	Fetal Muscle Trunk	muscle
49	chr9:100742800-100743600	Enhancers	Pancreas	Pancrea
50	chr9:100742800-100743600	Enhancers	Sigmoid Colon	Sigmoid Colon

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