Variant report

Variant	rs17095029
Chromosome Location	chr14:72140969-72140970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72137014..72139027-chr14:72140131..72141987,2	K562	blood:
2	chr14:72136543..72138514-chr14:72140123..72141987,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1204985	0.81[GIH][hapmap]
rs17091351	0.85[EUR][1000 genomes]
rs17096847	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17098340	1.00[EUR][1000 genomes]
rs74060395	0.82[EUR][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17095029	FAM196B	trans	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
3	chr14:72113800-72141600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:72118600-72142000	Weak transcription	Fetal Brain Male	brain
5	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:72119000-72141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:72119200-72152200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:72119800-72147400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:72123800-72146800	Weak transcription	Psoas Muscle	Psoas
10	chr14:72125400-72142000	Weak transcription	Small Intestine	intestine
11	chr14:72125400-72151000	Weak transcription	Ovary	ovary
12	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:72126400-72142400	Weak transcription	Stomach Mucosa	stomach
14	chr14:72126600-72141200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:72128600-72141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:72128600-72142200	Weak transcription	Fetal Brain Female	brain
18	chr14:72128800-72147800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:72129400-72141800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:72129400-72153600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
22	chr14:72131800-72154000	Weak transcription	Fetal Heart	heart
23	chr14:72134000-72153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:72134200-72151000	Weak transcription	NHDF-Ad	bronchial
25	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:72135000-72142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:72136000-72141800	Weak transcription	Brain Germinal Matrix	brain
28	chr14:72137200-72143200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:72137400-72141600	Strong transcription	Osteobl	bone
30	chr14:72137400-72142400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:72137600-72142600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:72137800-72141000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:72137800-72141200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:72137800-72141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:72137800-72142600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:72137800-72142600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:72137800-72142600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:72137800-72142600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr14:72137800-72142600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:72137800-72143200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:72137800-72143200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:72138000-72142000	Strong transcription	Gastric	stomach
43	chr14:72138000-72142200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:72138000-72142400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:72138000-72142600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:72138000-72142600	Strong transcription	Fetal Intestine Large	intestine
47	chr14:72138000-72142600	Strong transcription	Dnd41	blood
48	chr14:72138000-72143000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:72138200-72142000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:72138400-72142600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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