Variant report

Variant	rs762041
Chromosome Location	chr14:21275542-21275543
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	GATA1	chr14:21275449-21276420	PBDE	blood:	n/a	n/a
2	JUND	chr14:21275478-21275847	K562	blood:	n/a	n/a
3	TAL1	chr14:21275503-21276110	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21237702..21239397-chr14:21274792..21276728,2	K562	blood:
2	chr14:21273010..21275835-chr14:21280713..21283155,2	K562	blood:
3	chr14:21268961..21271659-chr14:21275522..21277680,2	K562	blood:

Variant related genes	Relation type
RNASE1	TF binding region
ENSG00000129538	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10139501	1.00[AMR][1000 genomes]
rs10148607	1.00[AMR][1000 genomes]
rs57320287	1.00[AMR][1000 genomes]
rs60197111	1.00[AMR][1000 genomes]
rs8005794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr14:21268600-21279800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:21270000-21278000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr14:21270400-21279800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:21271000-21280200	Weak transcription	Gastric	stomach
5	chr14:21271200-21275600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:21271400-21275600	Weak transcription	Fetal Lung	lung
7	chr14:21271400-21276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:21271400-21277200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:21271400-21277200	Enhancers	Stomach Mucosa	stomach
10	chr14:21271400-21278000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:21271400-21279000	Weak transcription	Placenta	Placenta
12	chr14:21271600-21275600	Weak transcription	Colonic Mucosa	Colon
13	chr14:21271600-21276800	Weak transcription	Adipose Nuclei	Adipose
14	chr14:21271600-21277600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:21271600-21278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:21271600-21280200	Weak transcription	Right Ventricle	heart
17	chr14:21272000-21275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:21272000-21276800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:21274000-21277000	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:21274000-21294800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:21274400-21278000	Weak transcription	Pancreas	Pancrea
22	chr14:21274400-21285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:21274400-21288000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:21274400-21288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:21274600-21275600	Weak transcription	Brain Substantia Nigra	brain
26	chr14:21274600-21276200	Enhancers	Brain Hippocampus Middle	brain
27	chr14:21274800-21276400	Weak transcription	Brain Angular Gyrus	brain
28	chr14:21275200-21275800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:21275200-21275800	Enhancers	K562	blood
30	chr14:21275200-21277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:21275400-21275600	Enhancers	Fetal Intestine Small	intestine
32	chr14:21275400-21275800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:21275400-21276200	Enhancers	Fetal Intestine Large	intestine
34	chr14:21275400-21276800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:21275400-21276800	Enhancers	Brain Anterior Caudate	brain
36	chr14:21275400-21277200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:21275400-21277200	Enhancers	Small Intestine	intestine
38	chr14:21275400-21277400	Enhancers	HUVEC	blood vessel

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