Variant report

Variant	rs55804417
Chromosome Location	chr14:31442844-31442845
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31442796..31445236-chr14:31495645..31497455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12101123	1.00[AFR][1000 genomes]
rs3784156	1.00[AFR][1000 genomes]
rs55634176	1.00[AFR][1000 genomes]
rs55732490	0.83[AFR][1000 genomes]
rs56316705	1.00[AFR][1000 genomes]
rs56966033	1.00[AFR][1000 genomes]
rs58179315	1.00[AFR][1000 genomes]
rs58379576	1.00[AFR][1000 genomes]
rs58559369	1.00[AFR][1000 genomes]
rs60843224	1.00[AFR][1000 genomes]
rs61404362	1.00[AFR][1000 genomes]
rs74040904	1.00[AFR][1000 genomes]
rs74040939	1.00[AFR][1000 genomes]
rs74040942	1.00[AFR][1000 genomes]
rs74040944	1.00[AFR][1000 genomes]
rs74040947	1.00[AFR][1000 genomes]
rs74040949	1.00[AFR][1000 genomes]
rs74040951	1.00[AFR][1000 genomes]
rs74040953	1.00[AFR][1000 genomes]
rs74040962	1.00[AFR][1000 genomes]
rs74040964	1.00[AFR][1000 genomes]
rs74040966	1.00[AFR][1000 genomes]
rs74041092	1.00[AFR][1000 genomes]
rs74041094	1.00[AFR][1000 genomes]
rs74041102	1.00[AFR][1000 genomes]
rs74042111	1.00[AFR][1000 genomes]
rs74042116	1.00[AFR][1000 genomes]
rs74042117	1.00[AFR][1000 genomes]
rs74042118	1.00[AFR][1000 genomes]
rs74042170	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
3	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:31436400-31457200	Weak transcription	HSMM	muscle
16	chr14:31436400-31457800	Weak transcription	NHEK	skin
17	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:31437400-31443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:31439000-31444400	Enhancers	HepG2	liver
21	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
22	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:31439800-31443400	Weak transcription	GM12878-XiMat	blood
24	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:31440200-31444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:31440400-31444200	Weak transcription	Psoas Muscle	Psoas
27	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
29	chr14:31441000-31443000	Enhancers	Stomach Mucosa	stomach
30	chr14:31441000-31443200	Weak transcription	Brain Angular Gyrus	brain
31	chr14:31441000-31443200	Weak transcription	Brain Substantia Nigra	brain
32	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:31441200-31457400	Weak transcription	NH-A	brain
35	chr14:31441400-31443000	Enhancers	Small Intestine	intestine
36	chr14:31441600-31443000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:31441600-31445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:31441600-31449800	Weak transcription	K562	blood
39	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:31441800-31443000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31441800-31444600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:31442000-31443600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:31442000-31444200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr14:31442000-31446400	Enhancers	Liver	Liver
45	chr14:31442200-31443000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:31442200-31443200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:31442200-31443400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:31442200-31443400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:31442200-31444000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:31442200-31444000	Weak transcription	Aorta	Aorta

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