Variant report

Variant	rs17002303
Chromosome Location	chr4:77900246-77900247
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	chr4:77869504..77871430-chr4:77898039..77900953,2	MCF-7	breast:
2	chr4:77898983..77902031-chr4:77906623..77909489,4	K562	blood:
3	chr4:77875173..77878998-chr4:77899246..77901954,4	K562	blood:
4	chr4:77897592..77900729-chr4:77901374..77904309,4	MCF-7	breast:
5	chr4:77869469..77872132-chr4:77898680..77900855,2	MCF-7	breast:
6	chr4:77883715..77886420-chr4:77899296..77901087,2	K562	blood:
7	chr4:77898148..77900686-chr4:77990889..77992486,2	K562	blood:
8	chr4:77898323..77901211-chr4:77930018..77931872,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138758	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10000055	1.00[AMR][1000 genomes]
rs10002970	1.00[AMR][1000 genomes]
rs10003222	1.00[AMR][1000 genomes]
rs10006616	1.00[AMR][1000 genomes]
rs10013521	1.00[AMR][1000 genomes]
rs10017180	1.00[AMR][1000 genomes]
rs10017391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024538	1.00[AMR][1000 genomes]
rs10049647	1.00[AMR][1000 genomes]
rs10518161	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17002311	1.00[AMR][1000 genomes]
rs17002313	1.00[AMR][1000 genomes]
rs17002323	1.00[AMR][1000 genomes]
rs28638241	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28657683	1.00[AMR][1000 genomes]
rs28670872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681642	1.00[AMR][1000 genomes]
rs28682963	1.00[AMR][1000 genomes]
rs28697276	1.00[AMR][1000 genomes]
rs9307223	1.00[AMR][1000 genomes]
rs9884835	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9991713	1.00[AMR][1000 genomes]
rs9992021	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:77879600-77904200	Weak transcription	Gastric	stomach
4	chr4:77882200-77905200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:77884800-77904200	Weak transcription	Pancreas	Pancrea
6	chr4:77890200-77901400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:77891200-77905600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:77891600-77907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:77891800-77901800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:77891800-77905200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:77892000-77902000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:77893000-77906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:77893200-77918800	Weak transcription	A549	lung
14	chr4:77893400-77901600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:77893400-77901800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:77893600-77901800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:77893600-77902400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:77893800-77901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:77893800-77901600	Weak transcription	Fetal Brain Male	brain
20	chr4:77894000-77901600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:77894200-77901400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:77894200-77901600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:77894600-77903000	Weak transcription	Esophagus	oesophagus
24	chr4:77894800-77904200	Weak transcription	Fetal Intestine Small	intestine
25	chr4:77895200-77905600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:77896200-77901400	Weak transcription	Psoas Muscle	Psoas
27	chr4:77896200-77905000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:77896400-77901400	Weak transcription	Fetal Stomach	stomach
29	chr4:77896400-77903400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:77897600-77900600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:77897800-77900600	Enhancers	NHLF	lung
32	chr4:77897800-77901400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:77897800-77905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:77898000-77901400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:77898200-77900400	Enhancers	Primary T cells from cord blood	blood
36	chr4:77898200-77900400	Enhancers	NHDF-Ad	bronchial
37	chr4:77898200-77900600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:77898200-77900600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:77898400-77900600	Enhancers	HMEC	breast
40	chr4:77898400-77903600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:77898800-77900400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:77898800-77901400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:77899000-77900400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:77899000-77900600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:77899000-77900600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:77899000-77908400	Enhancers	Adipose Nuclei	Adipose
47	chr4:77899200-77900600	Enhancers	Thymus	Thymus
48	chr4:77899200-77900800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:77899200-77901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:77899200-77903000	Enhancers	Rectal Mucosa Donor 31	rectum

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