Variant report

Variant	rs17557495
Chromosome Location	chr17:38649602-38649603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38646024..38649623-chr17:38649808..38652805,4	K562	blood:
2	chr17:38599522..38602273-chr17:38649440..38651470,2	MCF-7	breast:
3	chr17:38648823..38651196-chr17:38668294..38669923,2	K562	blood:
4	chr17:38642999..38645925-chr17:38647445..38650025,2	K562	blood:
5	chr17:38647398..38649761-chr17:38676727..38678938,2	K562	blood:
6	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:
7	chr17:38645404..38649775-chr17:38650279..38653252,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs15685	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:38643000-38654200	Weak transcription	Stomach Mucosa	stomach
3	chr17:38643800-38656000	Weak transcription	Right Atrium	heart
4	chr17:38647000-38649800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:38647000-38655200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr17:38647000-38656000	Weak transcription	Lung	lung
7	chr17:38647000-38656200	Weak transcription	Gastric	stomach
8	chr17:38647200-38649800	Weak transcription	NHDF-Ad	bronchial
9	chr17:38647200-38650000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:38647200-38652400	Weak transcription	Spleen	Spleen
11	chr17:38647200-38652400	Weak transcription	HepG2	liver
12	chr17:38647200-38654200	Weak transcription	Adipose Nuclei	Adipose
13	chr17:38647200-38654200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:38647200-38655600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:38647200-38656000	Weak transcription	Pancreas	Pancrea
16	chr17:38647400-38649800	Weak transcription	Osteobl	bone
17	chr17:38647400-38650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:38647600-38649800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:38647600-38653800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:38647800-38649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38647800-38649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:38647800-38649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:38647800-38649800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:38647800-38654200	Weak transcription	K562	blood
25	chr17:38647800-38654400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:38648000-38649800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:38648000-38654000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr17:38648000-38654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:38648200-38649800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:38648200-38649800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:38648200-38650000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:38648200-38654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:38648200-38654200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:38648200-38655800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:38648400-38650200	Weak transcription	Fetal Thymus	thymus
36	chr17:38648400-38654000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:38648400-38654200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:38648400-38654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:38648600-38649800	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:38648600-38650200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:38648600-38650400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:38648600-38652200	Weak transcription	Colonic Mucosa	Colon
43	chr17:38648600-38653800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:38648600-38653800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:38648600-38654000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr17:38648600-38654400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:38649000-38654200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:38649200-38649800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:38649400-38650000	Enhancers	Dnd41	blood
50	chr17:38649400-38654200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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