Variant report

Variant	rs7253575
Chromosome Location	chr19:41097775-41097776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41083044..41086167-chr19:41095673..41098202,4	K562	blood:
2	chr19:41084074..41087113-chr19:41095673..41098662,4	K562	blood:
3	chr19:41093850..41097927-chr19:41099715..41103880,5	K562	blood:
4	chr19:41091186..41093706-chr19:41096720..41098701,2	K562	blood:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000160410	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11665867	1.00[ASN][1000 genomes]
rs11666504	1.00[ASN][1000 genomes]
rs11667119	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	1.00[ASN][1000 genomes]
rs11672651	1.00[ASN][1000 genomes]
rs2077407	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	1.00[ASN][1000 genomes]
rs4624303	1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55658896	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55736297	0.81[EUR][1000 genomes]
rs55856492	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs73035918	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	1.00[ASN][1000 genomes]
rs73047073	1.00[ASN][1000 genomes]
rs73047085	1.00[ASN][1000 genomes]
rs73051885	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8106578	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv911725	chr19:41090190-41114065	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41083600-41100400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:41083600-41101000	Weak transcription	HSMMtube	muscle
3	chr19:41084200-41099800	Weak transcription	Fetal Brain Male	brain
4	chr19:41084400-41100000	Weak transcription	Stomach Mucosa	stomach
5	chr19:41084600-41100400	Weak transcription	NHDF-Ad	bronchial
6	chr19:41084600-41102600	Weak transcription	Right Atrium	heart
7	chr19:41086000-41097800	Strong transcription	Primary T cells from cord blood	blood
8	chr19:41086400-41100400	Weak transcription	K562	blood
9	chr19:41086800-41099000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:41086800-41100000	Weak transcription	Fetal Brain Female	brain
11	chr19:41086800-41100600	Weak transcription	Brain Angular Gyrus	brain
12	chr19:41087200-41100400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:41087600-41102600	Weak transcription	Small Intestine	intestine
14	chr19:41087800-41098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:41087800-41100000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:41088400-41100200	Weak transcription	Brain Substantia Nigra	brain
17	chr19:41088600-41100200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:41089200-41100400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:41089400-41098200	Weak transcription	Brain Germinal Matrix	brain
20	chr19:41090600-41099600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:41090800-41100000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:41091400-41100000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41093000-41099400	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:41093200-41097800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:41093200-41098400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:41093200-41099800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:41093200-41100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:41093200-41100400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:41093400-41098000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:41093400-41100400	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:41093600-41100200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:41094000-41099800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:41094400-41100200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:41094400-41102400	Weak transcription	Fetal Lung	lung
35	chr19:41094600-41100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41094600-41100400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:41094600-41101200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:41094600-41102800	Weak transcription	Aorta	Aorta
39	chr19:41094600-41102800	Weak transcription	Left Ventricle	heart
40	chr19:41094800-41097800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:41094800-41098400	Weak transcription	Liver	Liver
42	chr19:41094800-41099800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:41094800-41100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:41094800-41100200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:41094800-41100200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:41094800-41100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:41094800-41100200	Weak transcription	NH-A	brain
48	chr19:41094800-41100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:41094800-41100600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:41094800-41100600	Weak transcription	HSMM	muscle

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