Variant report

Variant	rs74060183
Chromosome Location	chr14:69276850-69276851
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69276296..69278428-chr14:69281559..69284109,2	K562	blood:
2	chr14:69134802..69136420-chr14:69275225..69277429,2	MCF-7	breast:
3	chr14:69276177..69278251-chr20:45985801..45987904,2	MCF-7	breast:
4	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

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

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

rs_ID	r²[population]
rs55958232	1.00[AFR][1000 genomes]
rs56392804	1.00[AFR][1000 genomes]
rs74060163	0.97[AFR][1000 genomes]
rs74060165	0.97[AFR][1000 genomes]
rs74060166	1.00[AFR][1000 genomes]
rs74060175	1.00[AFR][1000 genomes]
rs74060177	1.00[AFR][1000 genomes]
rs74060186	0.97[AFR][1000 genomes]
rs74060197	0.80[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
4	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
6	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:69272200-69277000	Enhancers	Placenta	Placenta
8	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
9	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:69272800-69277200	Enhancers	Fetal Intestine Large	intestine
11	chr14:69272800-69277200	Enhancers	Pancreas	Pancrea
12	chr14:69273200-69277200	Enhancers	Lung	lung
13	chr14:69274000-69277000	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:69274000-69278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:69274000-69278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:69274000-69278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:69274000-69281000	Weak transcription	Aorta	Aorta
18	chr14:69274000-69281000	Weak transcription	Fetal Brain Male	brain
19	chr14:69274200-69278800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:69274200-69279000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:69274200-69279200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:69274200-69279400	Weak transcription	GM12878-XiMat	blood
23	chr14:69274200-69279600	Weak transcription	Thymus	Thymus
24	chr14:69274200-69280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:69274200-69280000	Weak transcription	Brain Substantia Nigra	brain
26	chr14:69274200-69280000	Weak transcription	Psoas Muscle	Psoas
27	chr14:69274200-69280800	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:69274200-69281000	Weak transcription	Brain Angular Gyrus	brain
29	chr14:69274400-69277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:69274400-69278000	Weak transcription	Right Atrium	heart
31	chr14:69274400-69279400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:69274400-69279600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:69274400-69280800	Weak transcription	K562	blood
34	chr14:69274400-69281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:69274400-69281000	Weak transcription	Osteobl	bone
36	chr14:69274600-69277000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:69274600-69277600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:69274600-69277800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:69274600-69278200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:69274600-69278800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:69274600-69279000	Weak transcription	Primary T cells from cord blood	blood
42	chr14:69274600-69280000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:69274600-69280000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:69274600-69280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:69274600-69280400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:69274600-69280400	Weak transcription	NHDF-Ad	bronchial
47	chr14:69274800-69277200	Weak transcription	A549	lung
48	chr14:69274800-69278800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:69274800-69280000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:69274800-69280000	Weak transcription	Duodenum Mucosa	Duodenum

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