Variant report

Variant	rs56041121
Chromosome Location	chr17:38517423-38517424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38515380..38518267-chr17:38554821..38556502,2	K562	blood:
2	chr17:38513683..38518140-chr17:38518168..38520491,4	MCF-7	breast:
3	chr17:38511765..38516691-chr17:38517275..38519964,6	K562	blood:
4	chr17:38516138..38520860-chr17:38599243..38602533,5	K562	blood:
5	chr17:38516676..38522970-chr17:38526479..38531615,7	K562	blood:
6	chr17:38495479..38497798-chr17:38515980..38518835,2	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000252618	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 8 )
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]
rs59702673	1.00[EUR][1000 genomes]
rs73983038	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73983040	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9903261	1.00[EUR][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	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	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38505200-38518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:38508800-38519000	Weak transcription	Psoas Muscle	Psoas
3	chr17:38509200-38518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38509200-38518400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:38510800-38519000	Weak transcription	Aorta	Aorta
6	chr17:38512000-38518400	Weak transcription	Pancreas	Pancrea
7	chr17:38512000-38518600	Weak transcription	Right Atrium	heart
8	chr17:38512400-38518600	Weak transcription	HMEC	breast
9	chr17:38512800-38519000	Weak transcription	HSMMtube	muscle
10	chr17:38513000-38518600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:38513000-38518600	Weak transcription	Ovary	ovary
12	chr17:38513000-38518800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:38513000-38519000	Weak transcription	Left Ventricle	heart
14	chr17:38513000-38519000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:38513400-38517600	Weak transcription	Spleen	Spleen
16	chr17:38513400-38518600	Weak transcription	Gastric	stomach
17	chr17:38513600-38517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:38513600-38517800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:38513600-38518400	Weak transcription	Lung	lung
20	chr17:38514200-38517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:38514200-38517800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:38514400-38517600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:38515200-38518400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:38515200-38518400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:38515200-38518400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr17:38515200-38518400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:38515200-38518400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:38515200-38518600	Weak transcription	HSMM	muscle
29	chr17:38515200-38518600	Weak transcription	NHDF-Ad	bronchial
30	chr17:38515200-38518800	Weak transcription	HUVEC	blood vessel
31	chr17:38515200-38519000	Weak transcription	Primary B cells from cord blood	blood
32	chr17:38515200-38519400	Weak transcription	Brain Angular Gyrus	brain
33	chr17:38515400-38518200	Weak transcription	Dnd41	blood
34	chr17:38515400-38518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38515400-38518400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:38515400-38518400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:38515400-38518400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38515400-38518400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:38515400-38518400	Weak transcription	NHLF	lung
40	chr17:38515400-38518600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:38515400-38518600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:38515400-38518600	Weak transcription	Liver	Liver
43	chr17:38515400-38519800	Weak transcription	Stomach Mucosa	stomach
44	chr17:38515600-38518400	Weak transcription	Hela-S3	cervix
45	chr17:38515600-38518400	Weak transcription	K562	blood
46	chr17:38515600-38518800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr17:38515800-38518400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:38516000-38518600	Enhancers	A549	lung
49	chr17:38517200-38517600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr17:38517200-38517800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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