Variant report

Variant	rs11846854
Chromosome Location	chr14:55493025-55493026
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	JUN	chr14:55492821-55494263	K562	blood:	n/a	chr14:55493336-55493343 chr14:55493334-55493345 chr14:55493338-55493347 chr14:55493338-55493346 chr14:55493339-55493346
2	MXI1	chr14:55492547-55495304	SK-N-SH	brain:	n/a	n/a
3	SIN3A	chr14:55492237-55494788	H1-hESC	embryonic stem cell:	n/a	n/a
4	HCFC1	chr14:55492961-55494577	Hela-S3	cervix:	n/a	n/a
5	EP300	chr14:55492986-55493225	GM12878	blood:	n/a	n/a
6	CHD1	chr14:55492126-55494811	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:55491898-55494569	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:55492902-55493038	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
2	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
3	chr14:55492412..55494140-chr14:55594962..55596941,2	MCF-7	breast:
4	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
5	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:

Variant related genes	Relation type
SOCS4	TF binding region
ENSG00000168175	Chromatin interaction
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10144886	1.00[EUR][1000 genomes]
rs10220644	1.00[EUR][1000 genomes]
rs17093148	1.00[EUR][1000 genomes]
rs17128129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128159	1.00[EUR][1000 genomes]
rs28481602	1.00[EUR][1000 genomes]
rs59220564	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55472000-55493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55473000-55493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55486400-55493400	Weak transcription	Left Ventricle	heart
4	chr14:55491200-55493400	Weak transcription	Gastric	stomach
5	chr14:55491200-55495800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr14:55491400-55495200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:55491400-55495200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:55492000-55496200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:55492000-55496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:55492200-55493200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:55492200-55493200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:55492200-55493200	Flanking Active TSS	A549	lung
13	chr14:55492200-55493200	Flanking Active TSS	Dnd41	blood
14	chr14:55492200-55493400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:55492200-55493400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr14:55492200-55493400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:55492200-55493600	Flanking Active TSS	HUVEC	blood vessel
18	chr14:55492200-55495200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr14:55492200-55495200	Active TSS	Brain Germinal Matrix	brain
20	chr14:55492200-55496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:55492400-55493200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:55492400-55493200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:55492400-55493200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:55492400-55493200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:55492400-55493200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:55492400-55493200	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:55492400-55493200	Flanking Active TSS	Fetal Lung	lung
28	chr14:55492400-55493200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:55492400-55493200	Flanking Active TSS	HMEC	breast
30	chr14:55492400-55493200	Flanking Active TSS	HSMM	muscle
31	chr14:55492400-55493200	Flanking Active TSS	NH-A	brain
32	chr14:55492400-55493400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:55492400-55493400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:55492400-55493400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:55492400-55493600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:55492400-55494800	Active TSS	Fetal Thymus	thymus
37	chr14:55492400-55495200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:55492400-55495200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:55492400-55495600	Active TSS	Fetal Kidney	kidney
40	chr14:55492400-55496800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr14:55492600-55493200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:55492600-55493200	Enhancers	Colonic Mucosa	Colon
43	chr14:55492600-55493200	Flanking Active TSS	Fetal Brain Male	brain
44	chr14:55492600-55493200	Flanking Active TSS	Fetal Heart	heart
45	chr14:55492600-55493200	Flanking Active TSS	Fetal Stomach	stomach
46	chr14:55492600-55493200	Flanking Active TSS	Hela-S3	cervix
47	chr14:55492600-55493200	Flanking Active TSS	NHEK	skin
48	chr14:55492600-55493400	Flanking Active TSS	Osteobl	bone
49	chr14:55492600-55493800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:55492600-55495000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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