Variant report

Variant	rs9890048
Chromosome Location	chr17:19752560-19752561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19752348..19754374-chr17:19768940..19771870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9901906	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
3	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
4	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
6	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
7	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
8	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
9	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:19728000-19753800	Weak transcription	Thymus	Thymus
17	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
18	chr17:19728200-19769800	Weak transcription	HSMM	muscle
19	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
20	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:19728600-19756000	Weak transcription	HUVEC	blood vessel
22	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:19728800-19769400	Weak transcription	NHEK	skin
24	chr17:19733800-19752600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:19734000-19762800	Weak transcription	HMEC	breast
26	chr17:19734400-19755200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr17:19737600-19769800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:19738200-19767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:19741000-19752800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr17:19741400-19768600	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:19742800-19769800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:19744000-19769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:19744200-19770200	Weak transcription	Gastric	stomach
34	chr17:19745200-19752800	Strong transcription	Fetal Intestine Large	intestine
35	chr17:19745400-19755800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:19745400-19769200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr17:19746600-19761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:19746600-19762600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:19746600-19764800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:19746600-19765000	Weak transcription	A549	lung
41	chr17:19747000-19769800	Weak transcription	NHDF-Ad	bronchial
42	chr17:19747200-19769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:19748000-19753000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:19748000-19753600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:19748200-19753000	Strong transcription	Adipose Nuclei	Adipose
46	chr17:19748400-19752800	Strong transcription	Fetal Brain Female	brain
47	chr17:19748400-19756400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:19748800-19763000	Weak transcription	Fetal Kidney	kidney
49	chr17:19749200-19763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:19749600-19763000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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