Variant report

Variant	rs61976839
Chromosome Location	chr14:31517445-31517446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31406134..31408433-chr14:31516211..31518078,2	K562	blood:
2	chr14:31493905..31497521-chr14:31514684..31517822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10140248	1.00[ASN][1000 genomes]
rs10142411	1.00[ASN][1000 genomes]
rs11156654	1.00[ASN][1000 genomes]
rs11624128	1.00[ASN][1000 genomes]
rs12881165	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881677	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883240	1.00[ASN][1000 genomes]
rs12885160	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886365	1.00[ASN][1000 genomes]
rs12886419	1.00[ASN][1000 genomes]
rs12889381	1.00[ASN][1000 genomes]
rs12891080	1.00[ASN][1000 genomes]
rs12892791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894032	1.00[ASN][1000 genomes]
rs12895940	1.00[ASN][1000 genomes]
rs12897351	1.00[ASN][1000 genomes]
rs12898167	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34399663	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869270	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35941434	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571381	1.00[ASN][1000 genomes]
rs67489064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141291	1.00[ASN][1000 genomes]
rs7143908	1.00[ASN][1000 genomes]
rs7151175	1.00[ASN][1000 genomes]
rs8015705	1.00[ASN][1000 genomes]
rs8019317	0.91[AMR][1000 genomes];0.94[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
2	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
5	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
7	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
11	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:31503400-31520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31503600-31517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
17	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:31508200-31517600	Weak transcription	NHEK	skin
21	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
22	chr14:31508400-31519800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:31508600-31522200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:31508600-31522400	Weak transcription	Pancreas	Pancrea
25	chr14:31508800-31517600	Weak transcription	Hela-S3	cervix
26	chr14:31508800-31517600	Weak transcription	HepG2	liver
27	chr14:31510000-31524600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:31512800-31526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:31516400-31518400	Enhancers	A549	lung
30	chr14:31516800-31518400	Enhancers	Placenta	Placenta
31	chr14:31517000-31518400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:31517000-31518400	Enhancers	K562	blood
33	chr14:31517000-31527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:31517200-31529400	Weak transcription	Right Ventricle	heart

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