Variant report

Variant	rs17095251
Chromosome Location	chr14:103913782-103913783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103907322..103911578-chr14:103912398..103914942,4	K562	blood:
2	chr14:103909504..103912027-chr14:103912398..103915170,2	K562	blood:
3	chr14:103799148..103801068-chr14:103911027..103913977,2	K562	blood:
4	chr14:103803725..103806708-chr14:103912591..103914700,2	K562	blood:
5	chr14:103908524..103912690-chr14:103913411..103917216,6	MCF-7	breast:
6	chr14:103901716..103904340-chr14:103911430..103913967,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10484071	1.00[AFR][1000 genomes]
rs1060415	1.00[ASW][hapmap]
rs10873537	1.00[ASW][hapmap];0.82[MEX][hapmap];1.00[AFR][1000 genomes]
rs12050137	1.00[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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	125 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
3	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:103889400-103917800	Weak transcription	Gastric	stomach
5	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:103890200-103914200	Weak transcription	Lung	lung
7	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
9	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
11	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:103901000-103914400	Weak transcription	Spleen	Spleen
17	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
18	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:103901400-103914600	Weak transcription	Aorta	Aorta
20	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
21	chr14:103901600-103913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:103904200-103918200	Weak transcription	Fetal Intestine Large	intestine
25	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
26	chr14:103905200-103917800	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:103905800-103918400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:103906400-103916200	Weak transcription	Fetal Lung	lung
30	chr14:103906400-103917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:103906600-103916000	Weak transcription	HMEC	breast
32	chr14:103906600-103917800	Weak transcription	Fetal Thymus	thymus
33	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:103906800-103914600	Weak transcription	Adipose Nuclei	Adipose
35	chr14:103906800-103918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:103907000-103916200	Weak transcription	Osteobl	bone
37	chr14:103907000-103918400	Weak transcription	Primary T cells from cord blood	blood
38	chr14:103907200-103914000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:103908000-103914200	Weak transcription	Fetal Stomach	stomach
40	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:103908200-103917800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:103908200-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:103908400-103917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:103908400-103919800	Weak transcription	NHEK	skin
45	chr14:103908600-103920000	Weak transcription	Fetal Intestine Small	intestine
46	chr14:103909200-103916000	Weak transcription	NHDF-Ad	bronchial
47	chr14:103909600-103914800	Enhancers	K562	blood
48	chr14:103909600-103917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:103910200-103913800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood

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