Variant report

Variant	rs7690728
Chromosome Location	chr4:88356799-88356800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88342347..88345109-chr4:88355579..88358193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170502	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10000196	0.92[ASN][1000 genomes]
rs10009948	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10023606	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10024781	0.95[ASN][1000 genomes]
rs10030035	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032122	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10084883	0.98[ASN][1000 genomes]
rs12640451	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640894	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12650763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[ASN][1000 genomes]
rs12651034	0.98[ASN][1000 genomes]
rs28366407	0.96[ASN][1000 genomes]
rs28415220	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28437709	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28493315	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493566	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28529046	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28535549	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28696943	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28712618	0.98[ASN][1000 genomes]
rs28718986	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28762371	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28805573	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34027531	0.87[ASN][1000 genomes]
rs4411944	0.87[ASN][1000 genomes]
rs55824708	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56153912	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58192677	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67121411	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68045074	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72652067	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7665115	0.98[ASN][1000 genomes]
rs7673763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677249	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7680878	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995987	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7690728	HSD17B11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88344400-88398600	Weak transcription	Gastric	stomach
2	chr4:88345200-88356800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:88345200-88362800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:88345200-88363000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:88345200-88400000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:88345200-88416400	Weak transcription	Colonic Mucosa	Colon
7	chr4:88345400-88356800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:88345400-88357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:88345400-88357600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:88345400-88359400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:88345400-88359400	Weak transcription	Fetal Thymus	thymus
12	chr4:88345400-88361400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:88345400-88363400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:88345400-88372400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:88345400-88378800	Weak transcription	A549	lung
16	chr4:88345600-88357000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:88345800-88356800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:88345800-88356800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:88345800-88357200	Weak transcription	Left Ventricle	heart
20	chr4:88345800-88357400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:88345800-88360800	Weak transcription	Brain Anterior Caudate	brain
22	chr4:88345800-88363400	Weak transcription	Right Ventricle	heart
23	chr4:88345800-88372200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:88346000-88359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:88346000-88359400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:88346000-88363200	Weak transcription	Primary B cells from cord blood	blood
27	chr4:88346000-88364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:88346200-88359200	Weak transcription	NHDF-Ad	bronchial
29	chr4:88346200-88361000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:88346200-88363200	Weak transcription	K562	blood
31	chr4:88346200-88370600	Weak transcription	Thymus	Thymus
32	chr4:88346200-88382600	Weak transcription	NHLF	lung
33	chr4:88346400-88356800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:88346400-88356800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:88346400-88357200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:88346400-88357200	Weak transcription	Brain Angular Gyrus	brain
37	chr4:88346400-88357200	Weak transcription	Fetal Brain Female	brain
38	chr4:88346400-88357200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:88346400-88357200	Weak transcription	GM12878-XiMat	blood
40	chr4:88346400-88357200	Weak transcription	HUVEC	blood vessel
41	chr4:88346400-88357400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:88346400-88362600	Weak transcription	Brain Substantia Nigra	brain
43	chr4:88346400-88366200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:88346400-88369600	Weak transcription	Right Atrium	heart
45	chr4:88346400-88372200	Weak transcription	Aorta	Aorta
46	chr4:88346400-88379400	Weak transcription	Small Intestine	intestine
47	chr4:88346600-88360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:88346600-88360200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:88346600-88362800	Weak transcription	Osteobl	bone
50	chr4:88346600-88363800	Weak transcription	HMEC	breast

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