Variant report

Variant	rs10134819
Chromosome Location	chr14:103907570-103907571
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	chr14:103905179..103908365-chr14:103908903..103912092,3	K562	blood:
3	chr14:103902234..103904874-chr14:103907448..103909098,2	K562	blood:
4	chr14:103900219..103903734-chr14:103907448..103910788,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10129401	1.00[AMR][1000 genomes]
rs10129621	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130887	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138787	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs10139205	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145934	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149860	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220595	1.00[AMR][1000 genomes]
rs11623869	0.88[YRI][hapmap]
rs12100454	1.00[AMR][1000 genomes]
rs28524598	1.00[AMR][1000 genomes]
rs28701683	1.00[AMR][1000 genomes]
rs28701880	1.00[AMR][1000 genomes]
rs28711428	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56324843	1.00[AMR][1000 genomes]
rs56666624	1.00[AMR][1000 genomes]
rs57987958	1.00[AMR][1000 genomes]
rs58869129	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733762	1.00[AMR][1000 genomes]
rs7141712	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148427	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150651	1.00[AMR][1000 genomes]
rs7155401	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158972	1.00[AMR][1000 genomes]
rs73353046	1.00[AMR][1000 genomes]
rs73359246	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359263	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359299	1.00[AMR][1000 genomes]
rs73359301	1.00[AMR][1000 genomes]
rs73361317	1.00[AMR][1000 genomes]
rs73361323	1.00[AMR][1000 genomes]
rs73361328	1.00[AMR][1000 genomes]
rs73361331	1.00[AMR][1000 genomes]
rs73361334	1.00[AMR][1000 genomes]
rs73361335	1.00[AMR][1000 genomes]
rs73361345	1.00[AMR][1000 genomes]
rs73361349	1.00[AMR][1000 genomes]
rs73365132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006030	1.00[AMR][1000 genomes]
rs8009277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015505	1.00[AMR][1000 genomes]
rs879551	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	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:115 , 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	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
8	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:103894600-103908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
11	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
12	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
14	chr14:103895600-103911400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:103895800-103911200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:103895800-103911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:103896000-103909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:103896000-103911200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:103896000-103911400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:103896000-103911400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:103896000-103911400	Weak transcription	Ovary	ovary
23	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
24	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:103896200-103909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:103896200-103911400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:103897400-103911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:103899400-103911400	Weak transcription	Brain Anterior Caudate	brain
32	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:103901000-103908800	Weak transcription	HSMMtube	muscle
34	chr14:103901000-103911400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:103901000-103914400	Weak transcription	Spleen	Spleen
36	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
37	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:103901400-103908800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:103901400-103909600	Weak transcription	HSMM	muscle
40	chr14:103901400-103911600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:103901400-103914600	Weak transcription	Aorta	Aorta
42	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
43	chr14:103901600-103909600	Weak transcription	K562	blood
44	chr14:103901600-103911400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:103901600-103911600	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:103901600-103911600	Weak transcription	Right Ventricle	heart
47	chr14:103901600-103911600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:103901600-103912000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:103901600-103912000	Weak transcription	NH-A	brain
50	chr14:103901600-103913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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