Variant report

Variant	rs9894164
Chromosome Location	chr17:38084798-38084799
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	POLR2A	chr17:38082655-38084861	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:38083709-38084972	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:38083011-38086107	IMR90	lung:	n/a	n/a
4	POLR2A	chr17:38083614-38085028	GM12891	blood:	n/a	n/a
5	ESR1	chr17:38084680-38085187	T-47D	breast:	n/a	chr17:38084971-38084986 chr17:38084943-38084958
6	MTA3	chr17:38082426-38085085	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:38082695-38085190	GM18505	blood:	n/a	n/a
8	PML	chr17:38083392-38084952	GM12878	blood:	n/a	n/a
9	JUND	chr17:38084764-38085112	HepG2	liver:	n/a	chr17:38084931-38084940
10	HCFC1	chr17:38082898-38085036	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:38082472-38085031	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:38082594-38085130	H1-hESC	embryonic stem cell:	n/a	n/a
13	ESR1	chr17:38084676-38085174	T-47D	breast:	n/a	chr17:38084971-38084986 chr17:38084943-38084958
14	SREBP1	chr17:38083485-38085356	GM12878	blood:	n/a	n/a
15	TCF12	chr17:38082932-38084962	A549	lung:	n/a	chr17:38084449-38084456 chr17:38083668-38083678
16	ESR1	chr17:38084651-38085163	T-47D	breast:	n/a	chr17:38084971-38084986 chr17:38084943-38084958
17	ESR1	chr17:38084617-38085190	T-47D	breast:	n/a	chr17:38084971-38084986 chr17:38084943-38084958
18	CREB1	chr17:38082581-38085164	HepG2	liver:	n/a	n/a
19	ESR1	chr17:38084520-38085201	T-47D	breast:	n/a	chr17:38084971-38084986 chr17:38084943-38084958

No.	Distal block	Cell Line	Cell type
1	chr17:38082350..38085117-chr17:38171214..38173786,2	K562	blood:
2	chr17:38082705..38085668-chr17:38094969..38098446,5	K562	blood:
3	chr17:38083081..38090987-chr17:38092901..38098446,8	K562	blood:
4	chr17:38082095..38085117-chr17:38171214..38173786,3	K562	blood:
5	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3C-1	chr17:38084198-38086404	NONHSAT053500

Variant related genes	Relation type
ORMDL3	TF binding region
ENSG00000108342	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000204913	Chromatin interaction

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

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

rs_ID	r²[population]
rs2227334	1.00[MEX][hapmap]
rs41365448	1.00[MEX][hapmap]
rs7501734	1.00[MEX][hapmap]
rs8082130	1.00[MEX][hapmap]
rs9890792	1.00[MEX][hapmap]
rs9898129	1.00[MEX][hapmap]
rs9903261	1.00[MEX][hapmap]
rs9910635	1.00[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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38082600-38084800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr17:38082800-38084800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr17:38082800-38084800	Bivalent/Poised TSS	HepG2	liver
4	chr17:38083000-38084800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr17:38083000-38084800	Active TSS	Ovary	ovary
6	chr17:38083000-38085000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:38083000-38085000	Active TSS	Aorta	Aorta
8	chr17:38083200-38084800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:38083200-38084800	Active TSS	Fetal Brain Female	brain
10	chr17:38083200-38084800	Active TSS	Lung	lung
11	chr17:38083400-38084800	Active TSS	Left Ventricle	heart
12	chr17:38084000-38084800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr17:38084000-38084800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:38084000-38084800	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr17:38084000-38084800	Flanking Active TSS	HMEC	breast
16	chr17:38084000-38084800	Flanking Active TSS	HSMMtube	muscle
17	chr17:38084000-38084800	Flanking Active TSS	NHDF-Ad	bronchial
18	chr17:38084000-38085000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:38084000-38085000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr17:38084000-38085000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr17:38084000-38085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:38084000-38085200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:38084000-38085200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr17:38084000-38085400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38084000-38085400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:38084000-38085400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:38084000-38085400	Flanking Active TSS	HSMM	muscle
28	chr17:38084000-38085400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr17:38084000-38085400	Flanking Active TSS	NHLF	lung
30	chr17:38084000-38086200	Flanking Active TSS	NH-A	brain
31	chr17:38084000-38086200	Flanking Active TSS	Osteobl	bone
32	chr17:38084000-38086400	Flanking Active TSS	HUVEC	blood vessel
33	chr17:38084200-38084800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr17:38084200-38084800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:38084200-38084800	Active TSS	Fetal Brain Male	brain
36	chr17:38084200-38084800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr17:38084200-38084800	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr17:38084200-38084800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr17:38084200-38084800	Flanking Active TSS	Thymus	Thymus
40	chr17:38084200-38085000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr17:38084200-38085000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:38084200-38085000	Flanking Active TSS	Fetal Lung	lung
43	chr17:38084200-38086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr17:38084200-38086200	Flanking Active TSS	A549	lung
45	chr17:38084400-38084800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:38084400-38084800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr17:38084400-38084800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:38084400-38084800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr17:38084400-38084800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr17:38084400-38084800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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