Variant report

Variant	rs12939385
Chromosome Location	chr17:17031202-17031203
allele	A/G
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	ZNF263	chr17:17031155-17031387	HEK293-T-REx	kidney:	n/a	n/a
2	MAX	chr17:17030993-17031340	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17030511..17032760-chr17:17032782..17034676,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16961495	1.00[CEU][hapmap]
rs35034705	0.95[AFR][1000 genomes]
rs7208929	0.80[YRI][hapmap]
rs7210263	1.00[CEU][hapmap]
rs7212534	1.00[CEU][hapmap]
rs7224335	1.00[CEU][hapmap]
rs7224474	1.00[CEU][hapmap]
rs8068606	1.00[CEU][hapmap]
rs8077027	1.00[CEU][hapmap]
rs8077113	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:17023200-17034200	Weak transcription	NH-A	brain
6	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:17024400-17032800	Weak transcription	HUVEC	blood vessel
8	chr17:17024400-17039800	Weak transcription	Small Intestine	intestine
9	chr17:17024600-17036000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:17024800-17034200	Weak transcription	Fetal Kidney	kidney
12	chr17:17025000-17031400	Weak transcription	Ovary	ovary
13	chr17:17025000-17031400	Weak transcription	Stomach Mucosa	stomach
14	chr17:17026400-17034200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:17027200-17032600	Enhancers	Psoas Muscle	Psoas
16	chr17:17027400-17031800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:17027400-17032000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:17027400-17032200	Enhancers	Right Atrium	heart
19	chr17:17027400-17042400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:17027400-17043000	Strong transcription	NHEK	skin
21	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:17027600-17033400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:17027800-17032200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:17028000-17032000	Enhancers	Fetal Heart	heart
25	chr17:17028000-17038200	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr17:17028200-17032400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:17028200-17036600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr17:17028400-17031800	Genic enhancers	Fetal Stomach	stomach
29	chr17:17028800-17032200	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr17:17028800-17034400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:17029000-17035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr17:17029200-17031600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:17029200-17034400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:17029400-17035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:17029600-17033800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr17:17029600-17034200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:17029800-17031600	Strong transcription	GM12878-XiMat	blood
38	chr17:17029800-17032800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:17029800-17035400	Genic enhancers	Right Ventricle	heart
40	chr17:17029800-17043400	Strong transcription	NHLF	lung
41	chr17:17029800-17044200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:17029800-17088400	Strong transcription	Dnd41	blood
43	chr17:17030000-17031600	Genic enhancers	Spleen	Spleen
44	chr17:17030000-17031800	Weak transcription	NHDF-Ad	bronchial
45	chr17:17030000-17032800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:17030000-17041800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17030000-17042800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:17030000-17042800	Strong transcription	A549	lung
49	chr17:17030000-17043200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:17030000-17043200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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