Variant report

Variant	rs73983038
Chromosome Location	chr17:38507751-38507752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38472788..38480698-chr17:38493295..38509406,39	K562	blood:
2	chr17:38507026..38508719-chr17:38598987..38601879,2	K562	blood:
3	chr17:38333764..38335887-chr17:38505691..38508093,2	MCF-7	breast:
4	chr17:38464514..38466930-chr17:38507552..38511765,4	K562	blood:
5	chr17:38457066..38460899-chr17:38504442..38513119,13	K562	blood:

Variant related genes	Relation type
ENSG00000270145	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000131759	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10451257	1.00[EUR][1000 genomes]
rs56039264	1.00[EUR][1000 genomes]
rs56041121	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59702673	1.00[EUR][1000 genomes]
rs73983040	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9903261	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv908222	chr17:38504241-38526973	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38498000-38508000	Weak transcription	Dnd41	blood
2	chr17:38502400-38508400	Enhancers	Brain Angular Gyrus	brain
3	chr17:38502600-38507800	Enhancers	Fetal Heart	heart
4	chr17:38502800-38508000	Enhancers	Stomach Mucosa	stomach
5	chr17:38502800-38509400	Genic enhancers	Fetal Stomach	stomach
6	chr17:38503200-38508600	Genic enhancers	NHLF	lung
7	chr17:38503200-38512600	Genic enhancers	Spleen	Spleen
8	chr17:38503400-38509400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:38503400-38509600	Genic enhancers	Fetal Intestine Large	intestine
10	chr17:38503600-38513000	Genic enhancers	A549	lung
11	chr17:38503800-38508600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:38503800-38513600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:38504000-38509400	Genic enhancers	Fetal Intestine Small	intestine
14	chr17:38504000-38511600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr17:38504000-38511600	Weak transcription	Hela-S3	cervix
16	chr17:38504200-38507800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:38504400-38509600	Genic enhancers	Lung	lung
18	chr17:38504400-38509800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:38504400-38514000	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr17:38504400-38514200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr17:38504600-38508600	Enhancers	Brain Cingulate Gyrus	brain
22	chr17:38504600-38508600	Strong transcription	GM12878-XiMat	blood
23	chr17:38504600-38509000	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr17:38504600-38511400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr17:38504800-38507800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:38504800-38509400	Genic enhancers	Duodenum Mucosa	Duodenum
27	chr17:38504800-38510000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr17:38504800-38513000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:38505000-38513600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:38505200-38508000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr17:38505200-38508000	Enhancers	Right Atrium	heart
32	chr17:38505200-38508400	Enhancers	Brain Anterior Caudate	brain
33	chr17:38505200-38509000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:38505200-38509400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:38505200-38509600	Genic enhancers	Colonic Mucosa	Colon
36	chr17:38505200-38511000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:38505200-38511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:38505200-38511800	Weak transcription	Small Intestine	intestine
39	chr17:38505200-38518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:38505400-38511000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:38505400-38511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:38505400-38513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38505400-38514200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:38505600-38509200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr17:38505600-38509600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:38505600-38512800	Strong transcription	Primary T cells from cord blood	blood
47	chr17:38506000-38508200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:38506000-38511000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:38506200-38507800	Enhancers	Colon Smooth Muscle	Colon
50	chr17:38506200-38508200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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