Variant report

Variant	rs17423994
Chromosome Location	chr9:100203708-100203709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100200045..100202136-chr9:100203280..100205381,2	MCF-7	breast:
2	chr9:100202558..100205120-chr9:100394294..100396706,2	MCF-7	breast:
3	chr9:100202190..100205138-chr9:100228533..100230539,2	K562	blood:
4	chr9:100201448..100204015-chr9:100204331..100206716,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136925	Chromatin interaction
ENSG00000136937	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10817530	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10981916	0.83[MEX][hapmap]

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	nsv893609	chr9:100163998-100297592	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17423994	PHF2	cis	cerebellum	SCAN
rs17423994	TDRD7	cis	brain	BrainEAC
rs17423994	HSD17B3	cis	parietal	SCAN
rs17423994	ZNF782	cis	parietal	SCAN
rs17423994	LOC57653	cis	parietal	SCAN
rs17423994	RP11-23J9.4	cis	Artery Tibial	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100175400-100230800	Weak transcription	Psoas Muscle	Psoas
2	chr9:100175600-100245200	Weak transcription	Right Ventricle	heart
3	chr9:100182000-100205200	Weak transcription	Esophagus	oesophagus
4	chr9:100182000-100215600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:100182000-100234200	Weak transcription	A549	lung
6	chr9:100182200-100236000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:100182200-100263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:100182400-100203800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:100182600-100208600	Weak transcription	HSMM	muscle
10	chr9:100184600-100205200	Weak transcription	Brain Angular Gyrus	brain
11	chr9:100185400-100204200	Weak transcription	Fetal Heart	heart
12	chr9:100188200-100204400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:100188600-100205800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:100188800-100230600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:100189200-100213800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:100190400-100203800	Weak transcription	NHEK	skin
17	chr9:100190600-100203800	Weak transcription	HMEC	breast
18	chr9:100191800-100205800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:100193000-100203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:100193000-100227600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:100193200-100241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr9:100194400-100204200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:100194400-100225800	Weak transcription	Spleen	Spleen
24	chr9:100194600-100238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:100194600-100248800	Weak transcription	Small Intestine	intestine
26	chr9:100194800-100205000	Weak transcription	Aorta	Aorta
27	chr9:100194800-100209800	Weak transcription	HUVEC	blood vessel
28	chr9:100195200-100204800	Weak transcription	Thymus	Thymus
29	chr9:100195400-100206600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:100195400-100227600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:100195400-100244600	Weak transcription	Colonic Mucosa	Colon
32	chr9:100195400-100259800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:100195800-100211600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr9:100196600-100206200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:100196600-100227200	Weak transcription	Ovary	ovary
36	chr9:100196600-100228200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:100196800-100212400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:100196800-100227600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:100197200-100210200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:100198000-100245200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:100199200-100205600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:100199800-100211200	Weak transcription	Pancreas	Pancrea
43	chr9:100200000-100204600	Strong transcription	Primary B cells from cord blood	blood
44	chr9:100200000-100235800	Weak transcription	NHDF-Ad	bronchial
45	chr9:100200400-100207000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:100201400-100204200	Strong transcription	Primary T cells from cord blood	blood
47	chr9:100201400-100211000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:100201600-100204400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr9:100201600-100204400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr9:100201800-100204200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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