Variant report

Variant	rs2227318
Chromosome Location	chr17:38170476-38170477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr17:38169988-38170525	A549	lung:	n/a	n/a
2	NR3C1	chr17:38169965-38170529	A549	lung:	n/a	n/a
3	CHD1	chr17:38169950-38170498	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38169675..38170683-chr17:38324320..38325447,7	K562	blood:
2	chr17:38169634..38170581-chr17:38182673..38183938,4	MCF-7	breast:
3	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:
4	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
5	chr17:38169698..38170555-chr17:38182945..38183495,2	MCF-7	breast:
6	chr17:38170010..38170628-chr17:38267647..38268954,5	K562	blood:
7	chr17:38170232..38173097-chr17:38181812..38184113,4	MCF-7	breast:
8	chr17:38169698..38170628-chr17:38242600..38243276,2	MCF-7	breast:
9	chr17:38169753..38170672-chr17:38347301..38348138,3	K562	blood:
10	chr17:38028899..38029611-chr17:38169830..38170569,2	MCF-7	breast:
11	chr17:38169705..38170739-chr17:38231468..38232451,5	K562	blood:

No data

Variant related genes	Relation type
CSF3	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11652972	0.86[AFR][1000 genomes]
rs11655821	0.96[AFR][1000 genomes]
rs12941675	0.96[AFR][1000 genomes]
rs34029479	0.96[AFR][1000 genomes]
rs34616965	1.00[AFR][1000 genomes]
rs34622957	0.96[AFR][1000 genomes]
rs36026011	0.88[AFR][1000 genomes]
rs71371403	1.00[AFR][1000 genomes]
rs71371404	0.86[AFR][1000 genomes]
rs71371407	0.86[AFR][1000 genomes]
rs7211771	1.00[AFR][1000 genomes]
rs8068498	0.94[AFR][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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv908220	chr17:38153473-38175426	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38153800-38172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38154800-38173600	Weak transcription	Thymus	Thymus
3	chr17:38155000-38173600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:38155000-38174000	Weak transcription	Fetal Brain Female	brain
5	chr17:38155800-38171800	Weak transcription	Spleen	Spleen
6	chr17:38164600-38171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:38166800-38173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:38166800-38173800	Weak transcription	Primary T cells from cord blood	blood
9	chr17:38166800-38174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:38166800-38177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:38167000-38174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:38169000-38171400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:38169200-38172400	Enhancers	NHEK	skin
16	chr17:38169400-38171800	Enhancers	HMEC	breast
17	chr17:38169600-38171600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:38169600-38172400	Enhancers	Stomach Mucosa	stomach
19	chr17:38169600-38172600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38169600-38173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:38169600-38175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr17:38169800-38170600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr17:38169800-38171000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:38169800-38171000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:38169800-38171000	Enhancers	Right Ventricle	heart
26	chr17:38169800-38171600	Enhancers	K562	blood
27	chr17:38169800-38172200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:38169800-38172400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr17:38169800-38173000	Enhancers	Fetal Stomach	stomach
30	chr17:38169800-38175600	Enhancers	Fetal Lung	lung
31	chr17:38169800-38176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:38170000-38170800	Enhancers	Primary hematopoietic stem cells	blood
33	chr17:38170000-38171000	Enhancers	NHDF-Ad	bronchial
34	chr17:38170000-38171200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:38170000-38171200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:38170000-38171200	Weak transcription	Fetal Thymus	thymus
37	chr17:38170000-38171600	Enhancers	Hela-S3	cervix
38	chr17:38170000-38171800	Enhancers	HUVEC	blood vessel
39	chr17:38170000-38172000	Enhancers	Lung	lung
40	chr17:38170000-38173200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:38170000-38173600	Enhancers	Fetal Muscle Trunk	muscle
42	chr17:38170000-38174000	Weak transcription	Brain Germinal Matrix	brain
43	chr17:38170000-38174200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:38170000-38174600	Enhancers	Fetal Muscle Leg	muscle
45	chr17:38170000-38175200	Weak transcription	Brain Angular Gyrus	brain
46	chr17:38170000-38175600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:38170000-38176000	Enhancers	Ovary	ovary
48	chr17:38170000-38178800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr17:38170200-38170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:38170200-38170600	Enhancers	Muscle Satellite Cultured Cells	--

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