Variant report

Variant	rs11625988
Chromosome Location	chr14:103920560-103920561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103913931..103915971-chr14:103917961..103920745,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10137098	1.00[EUR][1000 genomes]
rs10146340	1.00[AMR][1000 genomes]
rs10149270	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151139	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621406	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12887238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2145858	0.94[AFR][1000 genomes]
rs2180992	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403181	0.92[AFR][1000 genomes]
rs2756130	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2756131	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2756137	0.90[AFR][1000 genomes]
rs2765050	0.88[AFR][1000 genomes]
rs2765053	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs34721082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906326	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906328	0.83[YRI][hapmap];0.96[AFR][1000 genomes]
rs62007720	0.85[AFR][1000 genomes]
rs6575987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6575990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6575993	0.96[AFR][1000 genomes]
rs7146717	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs7149291	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153380	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7156000	0.85[AFR][1000 genomes]
rs8003497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014010	0.98[AFR][1000 genomes]
rs911550	1.00[YRI][hapmap]
rs911556	1.00[YRI][hapmap];0.90[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	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
5	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
11	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:103912000-103921600	Weak transcription	NHLF	lung
13	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
14	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:103912400-103924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
23	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:103913000-103926600	Weak transcription	Fetal Brain Male	brain
25	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
26	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
27	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:103913600-103926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:103913800-103922400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:103914600-103922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:103914600-103922400	Weak transcription	Esophagus	oesophagus
33	chr14:103914600-103922600	Weak transcription	Psoas Muscle	Psoas
34	chr14:103914800-103922400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:103914800-103922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:103914800-103922400	Weak transcription	Brain Anterior Caudate	brain
37	chr14:103914800-103922400	Weak transcription	Fetal Kidney	kidney
38	chr14:103914800-103922400	Weak transcription	Spleen	Spleen
39	chr14:103914800-103922400	Weak transcription	K562	blood
40	chr14:103914800-103927800	Weak transcription	Aorta	Aorta
41	chr14:103914800-103928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:103915800-103922200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:103916000-103922400	Strong transcription	HMEC	breast
46	chr14:103916400-103923600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:103916800-103929000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:103917000-103922400	Weak transcription	A549	lung
49	chr14:103917000-103922800	Weak transcription	Liver	Liver
50	chr14:103917200-103922200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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