Variant report

Variant	rs4251610
Chromosome Location	chr14:54867506-54867507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:54863603..54865596-chr14:54865967..54868054,2	MCF-7	breast:
2	chr14:54863410..54864997-chr14:54865377..54868080,2	MCF-7	breast:
3	chr14:54866744..54869029-chr14:54902467..54905333,2	K562	blood:

Variant related genes	Relation type
ENSG00000100526	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1187590	1.00[CHB][hapmap]
rs1187594	1.00[CHB][hapmap]
rs1187596	1.00[CHB][hapmap]
rs1211769	1.00[CHB][hapmap]
rs1539116	1.00[CHB][hapmap]
rs72711646	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434716	chr14:54498289-54872556	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv832801	chr14:54722015-54886773	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:54864400-54868400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:54864400-54878600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:54864400-54880200	Weak transcription	Gastric	stomach
4	chr14:54864400-54895800	Weak transcription	Aorta	Aorta
5	chr14:54864400-54895800	Weak transcription	Right Ventricle	heart
6	chr14:54864400-54903600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:54864400-54907000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:54864600-54873800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:54864600-54880200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:54864600-54895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:54864800-54868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:54864800-54873800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:54864800-54873800	Weak transcription	Fetal Stomach	stomach
14	chr14:54864800-54891400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:54864800-54894400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:54865000-54873000	Weak transcription	Fetal Lung	lung
17	chr14:54865000-54873800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:54865000-54892400	Weak transcription	Fetal Kidney	kidney
19	chr14:54865200-54868000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:54865200-54873600	Weak transcription	Thymus	Thymus
21	chr14:54865200-54873800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:54865200-54875000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:54865200-54875600	Weak transcription	HSMM	muscle
24	chr14:54865200-54878200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:54865200-54879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:54865200-54891400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:54865200-54891400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:54865200-54891400	Weak transcription	NH-A	brain
29	chr14:54865200-54894400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:54865200-54896000	Weak transcription	Spleen	Spleen
31	chr14:54865200-54899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:54865200-54903600	Weak transcription	Small Intestine	intestine
33	chr14:54865400-54867600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:54865400-54868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:54865400-54873000	Weak transcription	Fetal Thymus	thymus
36	chr14:54865400-54891400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:54865400-54905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:54865600-54867600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:54865600-54868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:54865600-54868400	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:54865600-54873600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:54865600-54878000	Weak transcription	HMEC	breast
43	chr14:54865600-54880200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:54865600-54883200	Weak transcription	HUVEC	blood vessel
45	chr14:54865600-54887200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:54865600-54894400	Weak transcription	Fetal Heart	heart
47	chr14:54866000-54873000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:54866000-54880400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:54866000-54890600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:54866000-54895800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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