Variant report

Variant	rs11851588
Chromosome Location	chr14:78204986-78204987
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	chr14:78204842-78205311	HUVEC	blood vessel:	n/a	chr14:78204997-78205005 chr14:78204998-78205005
2	FOS	chr14:78204759-78205562	HUVEC	blood vessel:	n/a	chr14:78205108-78205119 chr14:78204997-78205005 chr14:78204998-78205005
3	NFIC	chr14:78204956-78205398	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr14:78204952-78205273	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr14:78204832-78205397	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr14:78204746-78205407	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78203883..78206555-chr14:78266429..78268356,2	MCF-7	breast:

Variant related genes	Relation type
SNW1	TF binding region
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11159289	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11848383	0.88[EUR][1000 genomes]
rs11849178	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12432712	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12436539	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17752182	0.82[AMR][1000 genomes]
rs17752374	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17752496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17752569	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825584	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5809847	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60975821	0.88[AFR][1000 genomes];0.96[EUR][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
6	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
12	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
20	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
35	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
36	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:78177200-78205200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:78177200-78205400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:78177200-78223800	Strong transcription	Dnd41	blood
41	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:78177600-78206200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:78180200-78205600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:78181600-78208000	Strong transcription	Fetal Lung	lung
45	chr14:78183600-78206000	Strong transcription	GM12878-XiMat	blood
46	chr14:78189400-78205000	Strong transcription	Brain Anterior Caudate	brain
47	chr14:78189400-78205400	Strong transcription	Thymus	Thymus
48	chr14:78189600-78205200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:78189800-78205400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:78190600-78205600	Strong transcription	H1 Cell Line	embryonic stem cell

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