Variant report

Variant	rs10753179
Chromosome Location	chr1:171707272-171707273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171700285..171702286-chr1:171705548..171707475,2	K562	blood:
2	chr1:171703481..171707808-chr1:171708683..171714433,8	K562	blood:
3	chr1:171705072..171707837-chr1:171716105..171717838,2	K562	blood:
4	chr1:171702790..171705406-chr1:171705984..171707493,2	K562	blood:
5	chr1:171704087..171706245-chr1:171706489..171709352,2	MCF-7	breast:
6	chr1:171703871..171705878-chr1:171705948..171707617,2	MCF-7	breast:
7	chr1:171706999..171709758-chr1:171709768..171711548,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117533	Chromatin interaction

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

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

rs_ID	r²[population]
rs3820167	0.91[ASN][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
3	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
4	chr1:171686600-171710400	Weak transcription	Gastric	stomach
5	chr1:171687600-171708000	Weak transcription	K562	blood
6	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:171692400-171710400	Weak transcription	Lung	lung
9	chr1:171692600-171708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:171692600-171709800	Weak transcription	Stomach Mucosa	stomach
11	chr1:171692600-171710200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:171693200-171709800	Weak transcription	Fetal Kidney	kidney
13	chr1:171694800-171709000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:171695000-171710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:171695600-171708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:171696000-171710200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:171696200-171710400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:171696400-171709800	Weak transcription	Psoas Muscle	Psoas
19	chr1:171697200-171710000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:171697600-171708200	Weak transcription	Spleen	Spleen
21	chr1:171697600-171708400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:171699400-171708200	Weak transcription	Hela-S3	cervix
23	chr1:171699800-171709600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:171701200-171707400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:171701600-171707800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:171702200-171707800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:171702400-171707600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:171702400-171707600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:171702400-171708000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:171702600-171707400	Strong transcription	Liver	Liver
31	chr1:171702600-171707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:171702800-171707600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:171702800-171707600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:171702800-171708000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:171703000-171709600	Weak transcription	Colonic Mucosa	Colon
36	chr1:171703200-171707800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:171703400-171707600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:171703600-171707400	Strong transcription	NHDF-Ad	bronchial
39	chr1:171703600-171708000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:171704000-171708000	Strong transcription	Primary B cells from cord blood	blood
41	chr1:171704200-171707400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:171704200-171707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:171704200-171707600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:171704200-171708000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:171704400-171707800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:171704400-171708000	Strong transcription	Osteobl	bone
47	chr1:171704600-171707400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:171704600-171707400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:171704600-171707400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:171704600-171707600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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