Variant report

Variant	rs71371404
Chromosome Location	chr17:38167551-38167552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38167508-38167558	HRCEpiC	kidney:	n/a
2	chr17:38167508-38167558	AoSMC	blood vessel:	n/a
3	chr17:38167508-38167558	HMEC	breast:	n/a
4	chr17:38167508-38167558	GM12878	blood:	n/a
5	chr17:38167508-38167558	T-47D	breast:	n/a
6	chr17:38167508-38167558	GM12892	blood:	n/a
7	chr17:38167508-38167558	HEEpiC	esophagus:	n/a
8	chr17:38167508-38167558	MCF10A-Er-Src	breast:	n/a
9	chr17:38167508-38167558	HAEpiC	amniotic membrane:	n/a
10	chr17:38167508-38167558	GM19239	blood:	n/a
11	chr17:38167508-38167558	PrEC	prostate:	n/a
12	chr17:38167508-38167558	AG10803	skin:	n/a
13	chr17:38167508-38167558	SAEC	small airway:	n/a
14	chr17:38167508-38167558	H1-hESC	embryonic stem cell:	embryo
15	chr17:38167508-38167558	K562	blood:	n/a
16	chr17:38167508-38167558	IMR90	lung:	fetal
17	chr17:38167508-38167558	CMK	blood:	n/a
18	chr17:38167508-38167558	PANC-1	pancreas:	n/a
19	chr17:38167508-38167558	NB4	blood:	n/a
20	chr17:38167508-38167558	HPAEpiC	pulmonary alveolar:	n/a
21	chr17:38167508-38167558	U87	brain:	n/a
22	chr17:38167508-38167558	NHBE	bronchial:	n/a
23	chr17:38167508-38167558	SK-N-SH_RA	brain:	n/a
24	chr17:38167508-38167558	Hela-S3	cervix:	n/a
25	chr17:38167508-38167558	AG04450	lung:	fetal
26	chr17:38167508-38167558	PFSK-1	brain:	n/a
27	chr17:38167508-38167558	AG09319	gingival:	n/a
28	chr17:38167508-38167558	HNPCEpiC	eye:	n/a
29	chr17:38167508-38167558	HUVEC	blood vessel:	n/a
30	chr17:38167508-38167558	HIPEpiC	eye:	n/a
31	chr17:38167508-38167558	ECC-1	luminal epithelium:	n/a
32	chr17:38167508-38167558	SK-N-MC	brain:	n/a
33	chr17:38167508-38167558	SKMC	muscle:	n/a
34	chr17:38167508-38167558	BE2_C	brain:	n/a
35	chr17:38167508-38167558	HCM	heart:	n/a
36	chr17:38167508-38167558	HEK293	kidney:	embryo
37	chr17:38167508-38167558	SK-N-SH	brain:	n/a
38	chr17:38167508-38167558	HL-60	blood:	n/a
39	chr17:38167508-38167558	HRPEpiC	eye:	n/a
40	chr17:38167508-38167558	BJ	skin:	n/a
41	chr17:38167508-38167558	HepG2	liver:	n/a
42	chr17:38167508-38167558	RPTEC	kidney:	n/a
43	chr17:38167508-38167558	ProgFib	skin:	n/a
44	chr17:38167508-38167558	NT2-D1	testis:	n/a
45	chr17:38167508-38167558	GM06990	blood:	n/a
46	chr17:38167508-38167558	Caco-2	colon:	n/a
47	chr17:38167508-38167558	HCF	heart:	n/a
48	chr17:38167508-38167558	LNCaP	prostate:	n/a
49	chr17:38167508-38167558	Hepatocyte	liver:	n/a
50	chr17:38167508-38167558	GM12891	blood:	n/a

No data

Variant related genes	Relation type
CSF3	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11652972	1.00[AFR][1000 genomes]
rs11655821	0.82[AFR][1000 genomes]
rs12941675	0.82[AFR][1000 genomes]
rs2227318	0.86[AFR][1000 genomes]
rs34029479	0.82[AFR][1000 genomes]
rs34556339	0.91[AFR][1000 genomes]
rs34616965	0.86[AFR][1000 genomes]
rs34622957	0.82[AFR][1000 genomes]
rs57873211	0.87[AFR][1000 genomes]
rs71371403	0.86[AFR][1000 genomes]
rs71371407	0.80[AFR][1000 genomes]
rs7211771	0.86[AFR][1000 genomes]
rs8068498	0.80[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38153800-38172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38154600-38170000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:38154600-38170200	Weak transcription	Esophagus	oesophagus
4	chr17:38154800-38173600	Weak transcription	Thymus	Thymus
5	chr17:38155000-38170000	Weak transcription	HSMM	muscle
6	chr17:38155000-38173600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:38155000-38174000	Weak transcription	Fetal Brain Female	brain
8	chr17:38155400-38170200	Weak transcription	Placenta	Placenta
9	chr17:38155600-38169600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr17:38155600-38169800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:38155800-38171800	Weak transcription	Spleen	Spleen
12	chr17:38164600-38171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:38165200-38169800	Weak transcription	K562	blood
14	chr17:38166600-38168000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:38166800-38169000	Weak transcription	Fetal Thymus	thymus
16	chr17:38166800-38169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:38166800-38169600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:38166800-38169600	Weak transcription	Stomach Mucosa	stomach
19	chr17:38166800-38169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:38166800-38169800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:38166800-38169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:38166800-38169800	Weak transcription	Fetal Lung	lung
23	chr17:38166800-38169800	Weak transcription	Dnd41	blood
24	chr17:38166800-38170000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:38166800-38173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:38166800-38173800	Weak transcription	Primary T cells from cord blood	blood
27	chr17:38166800-38174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:38166800-38177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:38167000-38169200	Weak transcription	NHEK	skin
32	chr17:38167000-38174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:38167400-38167600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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