Variant report

Variant	rs17195376
Chromosome Location	chr6:30460942-30460943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30455567..30461073-chr6:30522731..30527408,12	MCF-7	breast:
2	chr6:30458696..30461748-chr6:30472625..30475481,3	K562	blood:
3	chr6:30460308..30463504-chr6:30467880..30470145,3	K562	blood:
4	chr6:30460538..30462346-chr6:30567342..30569437,2	K562	blood:
5	chr6:30459180..30463504-chr6:30468325..30471829,5	K562	blood:
6	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
7	chr6:30460254..30462498-chr6:30524034..30526480,3	K562	blood:
8	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
9	chr6:30460032..30464090-chr6:30482705..30485397,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17195411	0.80[AFR][1000 genomes]
rs3815101	0.80[AFR][1000 genomes]
rs4148247	0.80[AFR][1000 genomes]
rs58423891	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58569354	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60081418	0.80[AFR][1000 genomes]
rs61134417	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7746096	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7767714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7768140	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9283	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers 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	1012 gene(s)	inside rSNPs	diseases
5	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
9	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
10	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30457200-30462200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr6:30457200-30462600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:30457400-30461800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:30457400-30462400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
5	chr6:30457600-30461000	Transcr. at gene 5' and 3'	Lung	lung
6	chr6:30457600-30462200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
8	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr6:30457600-30462600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr6:30458000-30461000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
11	chr6:30458000-30461800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
12	chr6:30458000-30462000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
13	chr6:30458000-30462600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
14	chr6:30458200-30461400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
15	chr6:30458600-30462200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:30458600-30462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:30458600-30464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:30458600-30465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:30458600-30467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:30458800-30461600	Weak transcription	A549	lung
21	chr6:30458800-30462200	Strong transcription	HSMM	muscle
22	chr6:30459000-30461600	Strong transcription	Osteobl	bone
23	chr6:30459000-30461800	Strong transcription	Fetal Intestine Large	intestine
24	chr6:30459000-30462200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:30459000-30462200	Weak transcription	K562	blood
26	chr6:30459000-30462400	Strong transcription	Fetal Intestine Small	intestine
27	chr6:30459000-30462600	Weak transcription	Fetal Kidney	kidney
28	chr6:30459200-30461800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:30459200-30462400	Strong transcription	Fetal Stomach	stomach
30	chr6:30459400-30461400	Strong transcription	Brain Substantia Nigra	brain
31	chr6:30459400-30461400	Genic enhancers	Small Intestine	intestine
32	chr6:30459400-30461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:30459600-30461800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:30459600-30462000	Strong transcription	NHEK	skin
35	chr6:30459600-30462200	Strong transcription	Esophagus	oesophagus
36	chr6:30459600-30462200	Strong transcription	NHDF-Ad	bronchial
37	chr6:30459600-30464200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:30459800-30462000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:30459800-30464000	Weak transcription	Hela-S3	cervix
40	chr6:30460000-30461800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:30460200-30461400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:30460200-30461400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:30460200-30461800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:30460200-30462000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:30460200-30462200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:30460200-30462200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:30460200-30462200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:30460200-30462200	Strong transcription	Gastric	stomach
49	chr6:30460200-30462400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:30460200-30462400	Strong transcription	Colon Smooth Muscle	Colon

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