Variant report

Variant	rs17102321
Chromosome Location	chr1:47063852-47063853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:47063803-47064058	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47060645..47062314-chr1:47062417..47064887,3	K562	blood:
2	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
3	chr1:47062611..47065175-chr1:47080228..47083086,2	MCF-7	breast:
4	chr1:47060289..47062565-chr1:47063314..47065574,2	MCF-7	breast:
5	chr1:47049449..47051396-chr1:47063094..47066029,3	K562	blood:
6	chr1:47061375..47064454-chr1:47072882..47074737,3	K562	blood:

No data

Variant related genes	Relation type
MKNK1	TF binding region
ENSG00000079277	Chromatin interaction
ENSG00000142961	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2297850	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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	17 gene(s)	inside rSNPs	diseases
6	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
5	chr1:47048400-47069000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:47050600-47068600	Weak transcription	NHDF-Ad	bronchial
7	chr1:47055400-47068800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:47056400-47067000	Weak transcription	Stomach Mucosa	stomach
9	chr1:47056600-47068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:47057000-47069000	Weak transcription	NH-A	brain
11	chr1:47057600-47065200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:47057600-47069000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:47058000-47068600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:47058600-47064800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:47058600-47064800	Weak transcription	Small Intestine	intestine
16	chr1:47058600-47065000	Weak transcription	Esophagus	oesophagus
17	chr1:47058600-47069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:47058800-47064400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:47058800-47064600	Weak transcription	Psoas Muscle	Psoas
20	chr1:47058800-47065600	Weak transcription	NHLF	lung
21	chr1:47058800-47068600	Weak transcription	Fetal Lung	lung
22	chr1:47058800-47068600	Weak transcription	Hela-S3	cervix
23	chr1:47059000-47064400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:47059000-47064600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:47059000-47065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:47059000-47065000	Weak transcription	Right Ventricle	heart
27	chr1:47059000-47065200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:47059000-47068400	Weak transcription	Aorta	Aorta
29	chr1:47059000-47068800	Weak transcription	Ovary	ovary
30	chr1:47059000-47068800	Weak transcription	HUVEC	blood vessel
31	chr1:47059200-47064400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:47059200-47065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:47059200-47067000	Weak transcription	HepG2	liver
34	chr1:47059200-47067400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:47059200-47068600	Weak transcription	Colonic Mucosa	Colon
36	chr1:47059200-47068600	Weak transcription	Fetal Brain Female	brain
37	chr1:47059200-47068800	Weak transcription	A549	lung
38	chr1:47059600-47065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:47059600-47068600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:47059800-47064000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:47059800-47067200	Weak transcription	Gastric	stomach
42	chr1:47059800-47067200	Weak transcription	HMEC	breast
43	chr1:47059800-47068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:47059800-47068600	Weak transcription	Placenta	Placenta
45	chr1:47059800-47068800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:47059800-47068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:47059800-47069000	Weak transcription	HSMMtube	muscle
48	chr1:47060000-47064600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:47060000-47064800	Weak transcription	Left Ventricle	heart
50	chr1:47060000-47065000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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