Variant report

Variant	rs12938171
Chromosome Location	chr17:59980355-59980356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59979529..59987949-chr20:54150484..54157842,44	MCF-7	breast:
2	chr17:59978216..59981337-chr17:59982376..59985109,3	K562	blood:
3	chr17:59979433..59981185-chr20:55834287..55836052,2	MCF-7	breast:
4	chr17:59978593..59987926-chr20:54150517..54157312,46	MCF-7	breast:
5	chr17:59978598..59981594-chr20:55804815..55807384,2	MCF-7	breast:
6	chr17:59976105..59981042-chr17:59982250..59988291,12	MCF-7	breast:
7	chr17:59977562..59983189-chr17:60002830..60006642,8	MCF-7	breast:
8	chr17:59979765..59981274-chr20:55682478..55684654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34289250	1.00[AMR][1000 genomes]
rs73334687	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 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	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
3	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
4	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
5	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
6	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
7	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:59948000-59981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:59948200-59980600	Weak transcription	HMEC	breast
12	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
13	chr17:59950800-59981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:59951400-59992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:59951600-59989600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:59952800-59981400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:59953800-59985600	Weak transcription	Small Intestine	intestine
18	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:59954600-59984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:59958000-59987600	Weak transcription	Esophagus	oesophagus
21	chr17:59959000-59996800	Weak transcription	Gastric	stomach
22	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
23	chr17:59963400-59989600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:59963800-59989600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:59964000-59983200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr17:59965600-59981400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:59966000-59984600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
29	chr17:59966200-59981600	Weak transcription	Thymus	Thymus
30	chr17:59966200-59982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:59966200-59983000	Weak transcription	Spleen	Spleen
32	chr17:59966200-59987600	Weak transcription	Ovary	ovary
33	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:59967600-59980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:59967600-59983400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:59967600-59987000	Weak transcription	Fetal Brain Male	brain
37	chr17:59967600-59988400	Weak transcription	K562	blood
38	chr17:59968200-59980600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr17:59969200-59981400	Weak transcription	Placenta	Placenta
40	chr17:59969600-59981200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:59969800-59981200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:59970000-59983800	Weak transcription	HUVEC	blood vessel
43	chr17:59972000-59983600	Weak transcription	NH-A	brain
44	chr17:59974000-59982000	Strong transcription	Adipose Nuclei	Adipose
45	chr17:59974200-59981200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:59974200-59989600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:59974200-59993000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:59974400-59989600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:59974600-59981000	Weak transcription	NHDF-Ad	bronchial
50	chr17:59974800-59982000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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