Variant report

Variant	rs171377
Chromosome Location	chr19:38268528-38268529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38085182..38087082-chr19:38268049..38270346,2	K562	blood:
2	chr19:38261551..38263090-chr19:38267286..38270188,2	K562	blood:
3	chr19:38259097..38263090-chr19:38267286..38270188,4	K562	blood:
4	chr19:38266556..38268696-chr19:44667291..44670054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171817	Chromatin interaction
ENSG00000180479	Chromatin interaction
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2385006	0.81[AFR][1000 genomes]
rs2909087	0.81[AFR][1000 genomes]
rs2909090	0.81[AFR][1000 genomes]
rs2909096	0.81[AFR][1000 genomes]
rs2909101	0.81[AFR][1000 genomes]
rs2909107	0.81[AFR][1000 genomes]
rs2972429	0.81[AFR][1000 genomes]
rs2972431	0.81[AFR][1000 genomes]
rs2972432	0.81[AFR][1000 genomes]
rs2972435	0.81[AFR][1000 genomes]
rs2972450	0.81[AFR][1000 genomes]
rs2972460	0.81[AFR][1000 genomes]
rs3095723	0.81[AFR][1000 genomes]
rs3095725	0.81[AFR][1000 genomes]
rs3112436	0.81[AFR][1000 genomes]
rs856297	0.81[AFR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
2	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
3	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
4	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
5	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
7	chr19:38248800-38269400	Weak transcription	NH-A	brain
8	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
9	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:38251800-38269400	Weak transcription	Gastric	stomach
11	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
12	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:38252600-38269000	Weak transcription	NHEK	skin
14	chr19:38254600-38269400	Weak transcription	Right Ventricle	heart
15	chr19:38254800-38269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:38256800-38269400	Weak transcription	NHLF	lung
17	chr19:38258800-38269200	Weak transcription	HSMMtube	muscle
18	chr19:38259200-38269200	Weak transcription	Brain Angular Gyrus	brain
19	chr19:38259200-38269200	Weak transcription	Fetal Kidney	kidney
20	chr19:38259200-38269200	Weak transcription	HSMM	muscle
21	chr19:38259200-38269400	Weak transcription	Psoas Muscle	Psoas
22	chr19:38259400-38269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:38260200-38269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:38260200-38269200	Weak transcription	Fetal Thymus	thymus
25	chr19:38260800-38269000	Weak transcription	Thymus	Thymus
26	chr19:38260800-38269200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:38260800-38269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:38260800-38269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:38260800-38269400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:38261000-38269000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:38261000-38269200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:38261000-38269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:38261000-38269200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:38261000-38269200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:38261200-38269000	Weak transcription	Pancreas	Pancrea
36	chr19:38261200-38269200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:38261200-38269200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:38261200-38269200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:38261200-38269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:38261200-38269200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:38261200-38269200	Weak transcription	HepG2	liver
42	chr19:38261200-38269200	Weak transcription	Osteobl	bone
43	chr19:38261200-38269400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:38261200-38269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:38261200-38269400	Weak transcription	Esophagus	oesophagus
46	chr19:38261200-38269400	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:38261200-38269400	Weak transcription	Placenta	Placenta
48	chr19:38261200-38269400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:38261400-38268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:38261400-38269000	Weak transcription	Fetal Intestine Small	intestine

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