Variant report

Variant	rs6508801
Chromosome Location	chr19:38944346-38944347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38943453..38945033-chr19:38950574..38952356,2	K562	blood:
2	chr19:38941817..38944622-chr19:38944721..38946301,2	MCF-7	breast:
3	chr19:38932481..38934314-chr19:38941846..38944802,2	K562	blood:
4	chr19:38892052..38894136-chr19:38943162..38945573,3	K562	blood:
5	chr19:38942941..38945544-chr19:38995924..38999103,4	K562	blood:
6	chr19:38892636..38895689-chr19:38942209..38944706,3	K562	blood:

Variant related genes	Relation type
ENSG00000130244	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2176432	1.00[AFR][1000 genomes]
rs4802446	1.00[AFR][1000 genomes]
rs7250755	1.00[AFR][1000 genomes]
rs8107027	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38929800-38984400	Weak transcription	Psoas Muscle	Psoas
2	chr19:38930200-38978800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:38931200-38952400	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:38934600-38946800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr19:38934800-39005600	Strong transcription	Fetal Muscle Leg	muscle
6	chr19:38936200-38980800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:38936800-38963200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:38938600-38987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:38940000-39006400	Weak transcription	HSMM	muscle
10	chr19:38942200-38944600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:38942200-38958200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:38943400-38945000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:38943400-38945800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:38943400-38947800	Weak transcription	HSMMtube	muscle
15	chr19:38943600-38944400	Weak transcription	Spleen	Spleen
16	chr19:38943600-38944600	Enhancers	K562	blood
17	chr19:38943600-38945600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:38943600-38945600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:38943600-38946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:38943600-38946000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:38943600-38946000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:38943600-38946400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:38943600-38961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:38944200-38944400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:38944200-38946800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:38944200-38951600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:38944200-38959400	Weak transcription	Brain Cingulate Gyrus	brain

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