Variant report

Variant	rs2279171
Chromosome Location	chr1:150117295-150117296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr1:150116880-150117479	GM12878	blood:	n/a	n/a
2	CCNT2	chr1:150116903-150117354	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150063586..150065581-chr1:150114745..150117306,2	MCF-7	breast:
2	chr1:150114030..150119212-chr1:150119559..150123008,11	MCF-7	breast:
3	chr1:150100820..150102891-chr1:150115816..150118454,2	MCF-7	breast:
4	chr1:150109132..150112643-chr1:150114635..150117821,3	K562	blood:
5	chr1:145576841..145579319-chr1:150114752..150117693,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000131788	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000136631	Chromatin interaction

rs_ID	r²[population]
rs10494261	1.00[CHB][hapmap]
rs1050818	1.00[CHB][hapmap]
rs10749674	1.00[CHB][hapmap]
rs1105209	1.00[CHB][hapmap]
rs11205308	1.00[CHB][hapmap]
rs11205321	1.00[CHB][hapmap]
rs11205326	1.00[CHB][hapmap]
rs11205362	1.00[CHB][hapmap]
rs11548267	1.00[CHB][hapmap]
rs11577346	1.00[CHB][hapmap]
rs11580234	1.00[CHB][hapmap]
rs11583720	1.00[CHB][hapmap]
rs11584070	1.00[CHB][hapmap]
rs11584091	1.00[CHB][hapmap]
rs11584761	1.00[CHB][hapmap]
rs11585955	1.00[CHB][hapmap]
rs11588837	1.00[CHB][hapmap]
rs11591200	1.00[CHB][hapmap]
rs12060027	1.00[CHB][hapmap]
rs12060830	1.00[CHB][hapmap]
rs12061856	1.00[CHB][hapmap]
rs12063059	1.00[CHB][hapmap]
rs12063329	1.00[CHB][hapmap]
rs12066132	1.00[CHB][hapmap]
rs12077623	1.00[CHB][hapmap]
rs12081082	1.00[CHB][hapmap]
rs12086155	1.00[CHB][hapmap]
rs12120683	1.00[CHB][hapmap]
rs12124898	1.00[CHB][hapmap]
rs12126958	1.00[CHB][hapmap]
rs12138787	1.00[CHB][hapmap]
rs12139286	1.00[CHB][hapmap]
rs12145630	1.00[CHB][hapmap]
rs1339495	1.00[CHB][hapmap]
rs1382573	1.00[CHB][hapmap]
rs1545762	1.00[CHB][hapmap]
rs16833149	1.00[CHB][hapmap]
rs16835254	1.00[CHB][hapmap]
rs16835780	1.00[CHB][hapmap]
rs1964542	1.00[CHB][hapmap]
rs2027349	1.00[CHB][hapmap]
rs2039800	1.00[CHB][hapmap]
rs2044891	1.00[CHB][hapmap]
rs2318763	1.00[CHB][hapmap]
rs3118119	1.00[CHB][hapmap]
rs3208509	1.00[CHB][hapmap]
rs34755378	1.00[CHB][hapmap]
rs3850838	1.00[CHB][hapmap]
rs3850841	1.00[CHB][hapmap]
rs3925724	1.00[CHB][hapmap]
rs4058847	1.00[CHB][hapmap]
rs4926406	1.00[CHB][hapmap]
rs4926409	1.00[CHB][hapmap]
rs4926411	1.00[CHB][hapmap]
rs4926412	1.00[CHB][hapmap]
rs6666959	1.00[CHB][hapmap]
rs7520930	1.00[CHB][hapmap]
rs7521768	1.00[CHB][hapmap]
rs7521783	1.00[CHB][hapmap]
rs7530922	1.00[CHB][hapmap]
rs7532876	1.00[CHB][hapmap]
rs7550323	1.00[CHB][hapmap]
rs7550350	1.00[CHB][hapmap]
rs7553622	1.00[CHB][hapmap]
rs7554367	1.00[CHB][hapmap]
rs942453	1.00[CHB][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
2	chr1:150055000-150120800	Weak transcription	Aorta	Aorta
3	chr1:150067400-150121200	Weak transcription	Colonic Mucosa	Colon
4	chr1:150069000-150121000	Weak transcription	NHLF	lung
5	chr1:150071000-150121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:150071200-150120600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:150072400-150121000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:150079200-150121000	Weak transcription	Thymus	Thymus
9	chr1:150083600-150120800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:150085400-150119000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:150085400-150120800	Weak transcription	NH-A	brain
12	chr1:150085400-150121200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:150085400-150121200	Weak transcription	Psoas Muscle	Psoas
14	chr1:150085600-150121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:150085800-150121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:150087000-150118400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:150087000-150121200	Weak transcription	Esophagus	oesophagus
18	chr1:150087000-150121200	Weak transcription	Placenta	Placenta
19	chr1:150087800-150118600	Weak transcription	Dnd41	blood
20	chr1:150087800-150120800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:150087800-150121000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:150088000-150120800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:150088000-150120800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:150091200-150120400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:150091400-150119200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:150091400-150121000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:150091800-150121000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:150094200-150121200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:150095000-150120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:150096200-150120200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:150099400-150121200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:150100200-150120400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:150100400-150120800	Weak transcription	Fetal Stomach	stomach
34	chr1:150101000-150121200	Weak transcription	Lung	lung
35	chr1:150102600-150118800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:150102800-150120800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:150103200-150120200	Weak transcription	Fetal Lung	lung
38	chr1:150103800-150119200	Weak transcription	Fetal Brain Female	brain
39	chr1:150105200-150121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:150105200-150121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:150108000-150120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:150108000-150121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:150108200-150121200	Weak transcription	Osteobl	bone
44	chr1:150108800-150121400	Weak transcription	Brain Substantia Nigra	brain
45	chr1:150111200-150118200	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:150111400-150119400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:150111400-150121200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:150111600-150121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:150113400-150121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:150114200-150120800	Weak transcription	NHDF-Ad	bronchial

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