Variant report

Variant	rs138425291
Chromosome Location	chr14:70114312-70114313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70113887..70117052-chr14:70117331..70121263,5	K562	blood:
2	chr14:70108653..70111894-chr14:70113537..70117255,5	K562	blood:
3	chr14:70075910..70078866-chr14:70112750..70114338,2	MCF-7	breast:
4	chr14:70049658..70051914-chr14:70113200..70114742,2	K562	blood:
5	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
6	chr14:70049075..70051914-chr14:70112777..70114742,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	esv3414868	chr14:70114309-70114743	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
5	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
7	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:70109000-70114600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
10	chr14:70109400-70115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
12	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:70109800-70115200	Weak transcription	Fetal Thymus	thymus
14	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:70110000-70115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:70110400-70114800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:70110400-70115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:70110400-70115200	Weak transcription	Thymus	Thymus
21	chr14:70110400-70115400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70110400-70116000	Weak transcription	Esophagus	oesophagus
23	chr14:70110400-70121400	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
25	chr14:70110600-70115000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:70110600-70115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:70110600-70115400	Weak transcription	Aorta	Aorta
28	chr14:70110800-70115000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:70111200-70115000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:70112000-70114400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:70112000-70114400	Weak transcription	Spleen	Spleen
32	chr14:70112000-70115200	Weak transcription	NHEK	skin
33	chr14:70112200-70114400	Weak transcription	Right Atrium	heart
34	chr14:70112200-70115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:70112200-70115000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:70112200-70115200	Weak transcription	HMEC	breast
37	chr14:70112400-70114800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:70112400-70115000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:70112400-70117000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:70112800-70115200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:70113000-70115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:70113200-70114400	Genic enhancers	GM12878-XiMat	blood
44	chr14:70113400-70114400	Weak transcription	Primary B cells from cord blood	blood
45	chr14:70113600-70115000	Enhancers	Liver	Liver
46	chr14:70113600-70115200	Enhancers	Colon Smooth Muscle	Colon
47	chr14:70113600-70120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:70113600-70121200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:70113800-70114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:70113800-70114400	Enhancers	HSMM	muscle

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