Variant report

Variant	rs55907561
Chromosome Location	chr14:31522230-31522231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31520948..31523210-chr14:31526631..31529023,2	K562	blood:
2	chr14:31491737..31493873-chr14:31520369..31522639,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11620816	0.82[EUR][1000 genomes]
rs11624437	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625798	0.83[EUR][1000 genomes]
rs11628852	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628884	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845860	0.82[EUR][1000 genomes]
rs11848094	0.83[EUR][1000 genomes]
rs11848563	0.82[EUR][1000 genomes]
rs12148037	0.82[ASN][1000 genomes]
rs12892054	0.99[ASN][1000 genomes]
rs12892778	0.97[ASN][1000 genomes]
rs12895788	0.97[ASN][1000 genomes]
rs12896059	0.97[ASN][1000 genomes]
rs12897532	0.97[ASN][1000 genomes]
rs17097688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097735	0.86[EUR][1000 genomes]
rs17097741	0.84[EUR][1000 genomes]
rs17097743	0.86[EUR][1000 genomes]
rs2180610	0.97[ASN][1000 genomes]
rs34039100	0.82[EUR][1000 genomes]
rs34671063	0.99[ASN][1000 genomes]
rs34684806	0.83[EUR][1000 genomes]
rs3784161	0.82[ASN][1000 genomes]
rs3954287	0.83[EUR][1000 genomes]
rs55788541	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168081	0.84[EUR][1000 genomes]
rs56346233	0.84[EUR][1000 genomes]
rs58071351	0.84[EUR][1000 genomes]
rs58204331	0.86[EUR][1000 genomes]
rs58771204	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60928004	0.84[EUR][1000 genomes]
rs66528205	0.83[EUR][1000 genomes]
rs67960414	0.84[EUR][1000 genomes]
rs72670320	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670323	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670351	0.84[EUR][1000 genomes]
rs72670364	0.84[EUR][1000 genomes]
rs8010129	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS 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 miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
2	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
4	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
12	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
16	chr14:31508600-31522400	Weak transcription	Pancreas	Pancrea
17	chr14:31510000-31524600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:31512800-31526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:31517000-31527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:31517200-31529400	Weak transcription	Right Ventricle	heart
21	chr14:31518000-31527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:31518200-31524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:31518400-31522400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:31518400-31522400	Weak transcription	Placenta	Placenta
25	chr14:31518400-31522400	Weak transcription	NHDF-Ad	bronchial
26	chr14:31518400-31525800	Weak transcription	Hela-S3	cervix
27	chr14:31518400-31526200	Weak transcription	A549	lung
28	chr14:31519400-31524400	Weak transcription	HSMMtube	muscle
29	chr14:31520400-31528800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:31521000-31522400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:31521400-31522400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:31521400-31525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:31521800-31523000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:31521800-31523200	Enhancers	HepG2	liver
35	chr14:31522000-31522600	Enhancers	Stomach Mucosa	stomach
36	chr14:31522200-31522600	Enhancers	Left Ventricle	heart
37	chr14:31522200-31523000	Enhancers	Fetal Intestine Small	intestine
38	chr14:31522200-31525000	Enhancers	K562	blood

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