Variant report

Variant	rs59221745
Chromosome Location	chr9:95827640-95827641
allele	C/T
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	MAX	chr9:95827623-95828109	NB4	blood:	n/a	chr9:95827884-95827900 chr9:95827881-95827891 chr9:95827882-95827892 chr9:95827880-95827893 chr9:95827881-95827892 chr9:95827881-95827892 chr9:95827882-95827891 chr9:95827877-95827896 chr9:95827881-95827891 chr9:95827882-95827892 chr9:95827880-95827893 chr9:95827881-95827892
2	POLR2A	chr9:95827591-95828075	HL-60	blood:	n/a	n/a
3	SPI1	chr9:95827596-95828087	HL-60	blood:	n/a	chr9:95827840-95827853
4	MYC	chr9:95827611-95828220	NB4	blood:	n/a	chr9:95827884-95827900 chr9:95827881-95827891 chr9:95827882-95827892 chr9:95827880-95827893 chr9:95827881-95827892 chr9:95827881-95827892 chr9:95827882-95827891 chr9:95827877-95827896 chr9:95827881-95827891 chr9:95827882-95827892 chr9:95827880-95827893 chr9:95827881-95827892

No.	Distal block	Cell Line	Cell type
1	chr9:95826956..95829616-chr9:95830971..95832502,2	K562	blood:
2	chr9:95824581..95826118-chr9:95826533..95829514,2	MCF-7	breast:
3	chr9:95825270..95827646-chr9:95832621..95835628,3	K562	blood:

Variant related genes	Relation type
SUSD3	TF binding region
ENSG00000157303	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11794425	0.82[AFR][1000 genomes]
rs56868344	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56988496	0.80[ASN][1000 genomes]
rs57408424	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57974003	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62573565	0.82[AFR][1000 genomes]
rs7859904	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr9:95822000-95834200	Weak transcription	Esophagus	oesophagus
2	chr9:95822000-95834200	Weak transcription	Right Atrium	heart
3	chr9:95822400-95828600	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:95822600-95834400	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:95822800-95831000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:95823400-95827800	Weak transcription	Right Ventricle	heart
7	chr9:95824000-95833800	Weak transcription	Ovary	ovary
8	chr9:95824600-95854000	Weak transcription	Gastric	stomach
9	chr9:95824800-95833200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:95825200-95829000	Weak transcription	Pancreas	Pancrea
11	chr9:95825200-95834000	Weak transcription	Liver	Liver
12	chr9:95825400-95828200	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:95825600-95827800	Enhancers	Spleen	Spleen
14	chr9:95825800-95828600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:95826000-95827800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr9:95826200-95828000	Weak transcription	Brain Substantia Nigra	brain
17	chr9:95826200-95828400	Strong transcription	Fetal Intestine Small	intestine
18	chr9:95826400-95828400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr9:95826600-95828000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr9:95826600-95828200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:95826600-95828200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr9:95826600-95828400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:95826800-95828000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:95826800-95828200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:95826800-95828200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:95826800-95828400	Enhancers	Adipose Nuclei	Adipose
27	chr9:95827000-95827800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:95827000-95827800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:95827000-95827800	Weak transcription	Left Ventricle	heart
30	chr9:95827000-95828000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:95827000-95828200	Enhancers	Fetal Muscle Leg	muscle
32	chr9:95827000-95828400	Enhancers	Placenta	Placenta
33	chr9:95827000-95828400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:95827200-95827800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:95827200-95827800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:95827200-95827800	Enhancers	Lung	lung
37	chr9:95827200-95828000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:95827200-95828000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:95827200-95828800	Genic enhancers	Primary B cells from cord blood	blood
40	chr9:95827400-95828000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:95827400-95828000	Enhancers	Colonic Mucosa	Colon
42	chr9:95827400-95828200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:95827400-95828400	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr9:95827400-95828400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr9:95827400-95828400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:95827400-95828400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:95827400-95828400	Genic enhancers	Thymus	Thymus
48	chr9:95827400-95828400	Enhancers	Dnd41	blood
49	chr9:95827400-95828600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:95827400-95828800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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