Variant report

Variant	rs74060197
Chromosome Location	chr14:69286890-69286891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:
2	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
3	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
4	chr14:69284387..69286906-chr14:69288096..69291991,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11846864	0.92[AFR][1000 genomes]
rs11851059	0.85[AFR][1000 genomes]
rs55958232	0.80[AFR][1000 genomes]
rs56392804	0.80[AFR][1000 genomes]
rs74060166	0.80[AFR][1000 genomes]
rs74060175	0.80[AFR][1000 genomes]
rs74060177	0.80[AFR][1000 genomes]
rs74060183	0.80[AFR][1000 genomes]
rs74060186	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69283000-69287200	Enhancers	Fetal Stomach	stomach
2	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69284000-69287000	Enhancers	Rectal Smooth Muscle	rectum
7	chr14:69284000-69287000	Weak transcription	Dnd41	blood
8	chr14:69284000-69289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:69284000-69291200	Weak transcription	Right Atrium	heart
11	chr14:69284000-69291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:69284000-69291400	Weak transcription	HSMM	muscle
13	chr14:69284000-69300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:69284200-69287200	Enhancers	Colon Smooth Muscle	Colon
15	chr14:69284200-69291400	Weak transcription	Osteobl	bone
16	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
17	chr14:69284400-69287400	Enhancers	Esophagus	oesophagus
18	chr14:69284400-69291200	Weak transcription	Adipose Nuclei	Adipose
19	chr14:69284400-69291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:69284600-69287000	Weak transcription	Primary B cells from cord blood	blood
21	chr14:69284600-69287400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:69284600-69291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:69284800-69287000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:69284800-69289800	Weak transcription	Pancreas	Pancrea
25	chr14:69285000-69287000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:69285200-69287200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:69285200-69287200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:69285200-69287400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:69285200-69288200	Enhancers	Primary T cells from cord blood	blood
30	chr14:69285200-69291800	Enhancers	Fetal Muscle Leg	muscle
31	chr14:69285400-69287000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:69285400-69287000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:69285400-69287000	Weak transcription	Spleen	Spleen
34	chr14:69285400-69287200	Enhancers	Fetal Intestine Small	intestine
35	chr14:69285400-69288000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:69285400-69288200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:69285400-69289600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:69285600-69287400	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:69285800-69287000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:69285800-69287000	Enhancers	A549	lung
41	chr14:69285800-69287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:69285800-69287200	Enhancers	Fetal Intestine Large	intestine
43	chr14:69285800-69287200	Enhancers	Stomach Mucosa	stomach
44	chr14:69285800-69288000	Enhancers	Placenta	Placenta
45	chr14:69285800-69288200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69285800-69288200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:69285800-69288800	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:69285800-69289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:69285800-69290000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr14:69285800-69290000	Enhancers	Fetal Thymus	thymus

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