Variant report

Variant	rs12891708
Chromosome Location	chr14:21555068-21555069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21554852-21556439	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21554970-21556596	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:21555008-21556591	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21555032-21556135	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:21555039-21555069	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:21554941-21555449	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
2	chr14:21547728..21550194-chr14:21553022..21555412,3	K562	blood:
3	chr14:21554536..21557274-chr14:21571026..21572817,2	K562	blood:
4	chr14:21541567..21544364-chr14:21553571..21555627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258714	TF binding region
ARHGEF40	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12885183	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12885295	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12889267	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv2128510	chr14:21555067-21555068	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:21541200-21555200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
7	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:21541400-21555200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr14:21541400-21555200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr14:21541400-21555200	Strong transcription	Colonic Mucosa	Colon
11	chr14:21541400-21555600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:21541400-21558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
15	chr14:21541600-21555200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:21541600-21555200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr14:21541600-21555400	Strong transcription	Brain Hippocampus Middle	brain
18	chr14:21541600-21555800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:21541600-21557000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr14:21541600-21558800	Strong transcription	Fetal Lung	lung
21	chr14:21541600-21560400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:21541800-21555600	Strong transcription	Ovary	ovary
23	chr14:21542000-21555200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:21542000-21559800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr14:21542400-21555200	Strong transcription	Fetal Stomach	stomach
26	chr14:21542400-21560200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:21542400-21560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:21543200-21555200	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:21543400-21555200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr14:21543800-21561400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:21544200-21562200	Weak transcription	K562	blood
32	chr14:21544800-21555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
34	chr14:21546200-21555200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:21546200-21560400	Strong transcription	Pancreas	Pancrea
36	chr14:21548200-21562000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:21549200-21559000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:21550600-21557400	Strong transcription	Fetal Kidney	kidney
39	chr14:21551000-21555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:21551400-21555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:21551400-21562000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:21551800-21555400	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:21551800-21556400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:21552000-21556200	Genic enhancers	Adipose Nuclei	Adipose
45	chr14:21552400-21557200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:21553000-21556400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr14:21553400-21555400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:21553400-21555600	Enhancers	Fetal Heart	heart
49	chr14:21553400-21564400	Weak transcription	Right Atrium	heart
50	chr14:21553600-21555200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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