Variant report

Variant	rs10984961
Chromosome Location	chr9:100838126-100838127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr9:100837707-100838141	A549	lung:	n/a	chr9:100837881-100837892
2	RUNX3	chr9:100838100-100838520	GM12878	blood:	n/a	n/a
3	USF1	chr9:100837697-100838176	HCT-116	colon:	n/a	chr9:100837881-100837892
4	POLR2A	chr9:100836017-100838582	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100836616..100838130-chr9:100853751..100855728,2	K562	blood:
2	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
3	chr9:100833852..100836754-chr9:100837101..100838637,2	MCF-7	breast:
4	chr9:100837647..100840134-chr9:101017650..101020011,2	MCF-7	breast:
5	chr9:100838071..100839825-chr9:100848704..100850871,2	K562	blood:
6	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
7	chr9:100817775..100822653-chr9:100832609..100840095,16	MCF-7	breast:

No data

Variant related genes	Relation type
NANS	TF binding region
ENSG00000106785	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10984930	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10985045	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985049	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10985050	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12554940	0.83[EUR][1000 genomes]
rs1323521	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17806613	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2181583	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417728	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734769	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100819600-100848400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:100820000-100843000	Weak transcription	Brain Substantia Nigra	brain
3	chr9:100820000-100843200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:100820000-100843200	Weak transcription	Brain Germinal Matrix	brain
5	chr9:100820000-100843200	Weak transcription	Fetal Brain Female	brain
6	chr9:100820000-100847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:100820000-100849600	Weak transcription	Fetal Brain Male	brain
8	chr9:100820000-100850000	Weak transcription	Fetal Kidney	kidney
9	chr9:100820200-100843000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:100821200-100849600	Weak transcription	Right Atrium	heart
11	chr9:100823800-100842000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:100824600-100840000	Weak transcription	Ovary	ovary
13	chr9:100824800-100840000	Weak transcription	Right Ventricle	heart
14	chr9:100824800-100843200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:100827200-100841200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:100827400-100838400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:100827600-100838200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:100828600-100843200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:100828800-100843200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:100829000-100843600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:100829800-100840000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:100830200-100843000	Weak transcription	NH-A	brain
23	chr9:100832200-100839400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:100832200-100841200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:100833200-100838600	Enhancers	Stomach Mucosa	stomach
26	chr9:100834200-100838800	Weak transcription	HSMM	muscle
27	chr9:100834600-100839800	Weak transcription	Lung	lung
28	chr9:100834800-100839400	Weak transcription	Fetal Stomach	stomach
29	chr9:100834800-100840000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:100834800-100840200	Weak transcription	Pancreas	Pancrea
31	chr9:100835600-100839800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:100835600-100840200	Weak transcription	Esophagus	oesophagus
33	chr9:100836000-100838600	Enhancers	Colonic Mucosa	Colon
34	chr9:100836200-100839200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr9:100836400-100838200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:100836400-100838200	Enhancers	Liver	Liver
37	chr9:100836400-100838400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:100836400-100838600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:100836400-100838600	Enhancers	NHEK	skin
40	chr9:100836400-100838800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:100836400-100839200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr9:100836400-100839200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr9:100836400-100839200	Enhancers	Fetal Thymus	thymus
44	chr9:100836400-100839400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:100836400-100839400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr9:100836400-100839400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:100836400-100839400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr9:100836400-100839600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr9:100836600-100838400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:100836600-100838400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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