Variant report

Variant	rs11848094
Chromosome Location	chr14:31581971-31581972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31581693-31582064	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:31581969-31582328	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPL21P5	TF binding region
HECTD1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11620816	0.93[EUR][1000 genomes]
rs11622403	0.90[EUR][1000 genomes]
rs11625570	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11625798	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11626343	0.91[EUR][1000 genomes]
rs11845860	0.93[EUR][1000 genomes]
rs11848563	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17097688	0.83[EUR][1000 genomes]
rs17097735	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17097741	0.96[EUR][1000 genomes]
rs17097743	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34039100	0.87[EUR][1000 genomes]
rs34684806	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34745649	0.91[EUR][1000 genomes]
rs3954287	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45610935	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55907561	0.83[EUR][1000 genomes]
rs56168081	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56346233	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57000706	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57893693	0.91[EUR][1000 genomes]
rs58071351	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58204331	0.97[EUR][1000 genomes]
rs58771204	0.88[EUR][1000 genomes]
rs59458716	0.91[EUR][1000 genomes]
rs59933112	0.90[EUR][1000 genomes]
rs60350855	0.90[EUR][1000 genomes]
rs60928004	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61592116	0.90[EUR][1000 genomes]
rs66528205	0.94[EUR][1000 genomes]
rs67960414	0.96[EUR][1000 genomes]
rs72670334	0.86[EUR][1000 genomes]
rs72670351	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72670364	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72670371	0.91[EUR][1000 genomes]
rs72670374	0.91[EUR][1000 genomes]
rs72670375	0.91[EUR][1000 genomes]
rs72670377	0.91[EUR][1000 genomes]
rs72670385	0.91[EUR][1000 genomes]
rs72670390	0.91[EUR][1000 genomes]
rs72670391	0.91[EUR][1000 genomes]
rs72670396	0.91[EUR][1000 genomes]
rs72670398	0.88[EUR][1000 genomes]
rs72670399	0.91[EUR][1000 genomes]
rs9888564	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv983810	chr14:31579127-31582581	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31565600-31598000	Strong transcription	Liver	Liver
7	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:31566000-31586600	Strong transcription	Fetal Muscle Leg	muscle
10	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:31566200-31586600	Strong transcription	Primary T cells from cord blood	blood
15	chr14:31566200-31590600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:31566200-31591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
22	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:31566400-31586600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:31566600-31591000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:31566600-31592000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:31566600-31592400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:31566600-31592400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:31566600-31592800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr14:31567000-31591400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:31567000-31592600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:31567000-31592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:31567000-31597000	Strong transcription	HepG2	liver
38	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:31567000-31651200	Strong transcription	Dnd41	blood
41	chr14:31567200-31591200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:31567200-31592800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:31567200-31592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:31568200-31591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:31568400-31592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:31568600-31585600	Strong transcription	Fetal Kidney	kidney
48	chr14:31569400-31585600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:31569800-31592800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:31571600-31591400	Strong transcription	H1 Cell Line	embryonic stem cell

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