Variant report

Variant	rs7140323
Chromosome Location	chr14:104321261-104321262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104309239..104311339-chr14:104321164..104323172,2	MCF-7	breast:
2	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
3	chr14:104319613..104324063-chr14:104346589..104349290,5	MCF-7	breast:
4	chr14:104321201..104322886-chr14:104337478..104339238,2	MCF-7	breast:
5	chr14:104290311..104292684-chr14:104319761..104322144,2	MCF-7	breast:
6	chr14:104320527..104323273-chr14:104369468..104371736,3	MCF-7	breast:
7	chr14:104320605..104323611-chr14:104373502..104376733,3	MCF-7	breast:
8	chr14:104320208..104324271-chr14:104346660..104350133,4	MCF-7	breast:
9	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:
10	chr14:104320014..104324951-chr14:104331915..104336985,8	MCF-7	breast:
11	chr14:104320594..104323018-chr14:104349310..104351645,2	MCF-7	breast:
12	chr14:104319048..104323751-chr14:104384975..104388146,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10130973	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10135720	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10140452	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10146218	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11160764	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12436676	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2295144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2368561	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28616007	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28664585	0.81[EUR][1000 genomes]
rs28794002	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825550	0.84[EUR][1000 genomes]
rs61427488	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61995808	0.83[AMR][1000 genomes]
rs61995809	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61995810	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61995844	0.94[EUR][1000 genomes]
rs7157887	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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 miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv566028	chr14:104314023-104332759	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104315200-104327600	Weak transcription	Ovary	ovary
2	chr14:104316000-104321400	Weak transcription	Colonic Mucosa	Colon
3	chr14:104316000-104321600	Weak transcription	Left Ventricle	heart
4	chr14:104316000-104321600	Weak transcription	Right Ventricle	heart
5	chr14:104316200-104321400	Weak transcription	Fetal Heart	heart
6	chr14:104316400-104321400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:104319800-104323400	Enhancers	Placenta	Placenta
8	chr14:104320000-104322600	Flanking Active TSS	HepG2	liver
9	chr14:104320000-104325400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:104320200-104321600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:104320200-104321800	Enhancers	Fetal Kidney	kidney
12	chr14:104320200-104323200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:104320200-104323600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:104320200-104325200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:104320400-104321400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:104320400-104321600	Enhancers	Primary hematopoietic stem cells	blood
17	chr14:104320400-104322600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:104320400-104322800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:104320400-104323000	Enhancers	Fetal Lung	lung
20	chr14:104320400-104323000	Enhancers	Lung	lung
21	chr14:104320400-104323200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:104320400-104323600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:104320400-104323800	Enhancers	Spleen	Spleen
24	chr14:104320600-104323400	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:104320600-104323400	Enhancers	HUVEC	blood vessel
26	chr14:104320600-104323800	Enhancers	Fetal Muscle Leg	muscle
27	chr14:104320800-104321400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:104320800-104321800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:104320800-104323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:104321000-104321400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:104321000-104321400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:104321000-104321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:104321000-104321800	Enhancers	Right Atrium	heart
34	chr14:104321000-104321800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:104321000-104322400	Enhancers	Adipose Nuclei	Adipose
36	chr14:104321000-104322800	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:104321000-104322800	Enhancers	Gastric	stomach
38	chr14:104321000-104323000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:104321000-104323000	Enhancers	Esophagus	oesophagus
40	chr14:104321000-104323600	Enhancers	Pancreas	Pancrea
41	chr14:104321200-104321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:104321200-104321400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:104321200-104321400	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:104321200-104321600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:104321200-104321800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:104321200-104321800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:104321200-104322400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:104321200-104322800	Enhancers	Fetal Intestine Large	intestine
49	chr14:104321200-104322800	Enhancers	NHEK	skin
50	chr14:104321200-104323000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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