Variant report

Variant	rs200004054
Chromosome Location	chr14:24612578-24612579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24611975-24612602	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:24611831-24612739	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:24612492-24612908	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24612548-24613627	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:24611861-24613727	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24611866-24612658	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:24611837-24612606	GM12892	blood:	n/a	n/a
8	POLR2A	chr14:24609422-24612869	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24608474..24613065-chr14:24662221..24666729,4	K562	blood:
2	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
3	chr14:24611250..24612806-chr14:24630327..24632699,2	K562	blood:
4	chr14:23776206..23778027-chr14:24611088..24613091,2	MCF-7	breast:
5	chr14:24560493..24565596-chr14:24608942..24613068,5	K562	blood:
6	chr14:24581146..24586451-chr14:24599665..24612678,16	K562	blood:
7	chr14:24600617..24602409-chr14:24611058..24612735,2	K562	blood:
8	chr11:66247384..66249636-chr14:24610291..24612628,2	MCF-7	breast:
9	chr14:24563161..24566091-chr14:24610467..24613079,2	MCF-7	breast:
10	chr14:24611007..24612897-chr14:24738560..24740965,2	K562	blood:

No data

Variant related genes	Relation type
RNF31	TF binding region
EMC9	TF binding region
ENSG00000100926	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000259371	Chromatin interaction
ENSG00000129473	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100949	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv974317	chr14:24612043-24614614	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA	25 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24611200-24612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:24611200-24614000	Weak transcription	Small Intestine	intestine
3	chr14:24611400-24612800	Weak transcription	Gastric	stomach
4	chr14:24611400-24614600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:24611400-24614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:24611400-24614600	Weak transcription	Ovary	ovary
7	chr14:24611400-24614600	Weak transcription	Right Atrium	heart
8	chr14:24611400-24615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:24611400-24615400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:24611600-24612600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:24611600-24612600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:24611600-24612600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:24611600-24612600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:24611600-24612600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:24611600-24612600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:24611600-24612600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:24611600-24612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:24611600-24612600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:24611600-24612600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:24611600-24612600	Weak transcription	Fetal Stomach	stomach
21	chr14:24611600-24612600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:24611600-24612600	Weak transcription	Spleen	Spleen
23	chr14:24611600-24612600	Weak transcription	HSMM	muscle
24	chr14:24611600-24612800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:24611600-24612800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:24611600-24612800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:24611600-24612800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:24611600-24613000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:24611600-24613000	Weak transcription	Hela-S3	cervix
30	chr14:24611600-24613000	Enhancers	K562	blood
31	chr14:24611600-24613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:24611600-24613200	Enhancers	NHDF-Ad	bronchial
33	chr14:24611600-24614200	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:24611600-24614200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:24611600-24614600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:24611600-24614600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:24611600-24614600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:24611600-24614600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:24611600-24614600	Genic enhancers	Fetal Intestine Small	intestine
40	chr14:24611600-24614600	Weak transcription	Right Ventricle	heart
41	chr14:24611600-24614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:24611600-24614600	Weak transcription	HUVEC	blood vessel
43	chr14:24611600-24614800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:24611600-24614800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:24611600-24614800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:24611600-24614800	Weak transcription	Brain Substantia Nigra	brain
47	chr14:24611600-24615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:24611600-24615000	Weak transcription	Fetal Kidney	kidney
49	chr14:24611600-24615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr14:24611600-24615000	Genic enhancers	Fetal Thymus	thymus

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