Variant report

Variant	rs8003497
Chromosome Location	chr14:103914951-103914952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103914502..103918340-chr14:103920632..103922963,4	MCF-7	breast:
2	chr14:103909504..103912027-chr14:103912398..103915170,2	K562	blood:
3	chr14:103908524..103912690-chr14:103913411..103917216,6	MCF-7	breast:
4	chr14:103913931..103915971-chr14:103917961..103920745,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

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	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];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]
rs11625988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12887238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	0.90[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	0.82[YRI][hapmap];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	0.90[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]
rs8009905	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8014010	0.98[AFR][1000 genomes]
rs911550	1.00[LWK][hapmap];0.92[MKK][hapmap];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	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103889400-103917800	Weak transcription	Gastric	stomach
4	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
7	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
9	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
15	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
17	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:103904200-103918200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
21	chr14:103905200-103917800	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:103905800-103918400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:103906400-103916200	Weak transcription	Fetal Lung	lung
25	chr14:103906400-103917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:103906600-103916000	Weak transcription	HMEC	breast
27	chr14:103906600-103917800	Weak transcription	Fetal Thymus	thymus
28	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:103906800-103918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:103907000-103916200	Weak transcription	Osteobl	bone
31	chr14:103907000-103918400	Weak transcription	Primary T cells from cord blood	blood
32	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:103908200-103917800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:103908200-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:103908400-103917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:103908400-103919800	Weak transcription	NHEK	skin
37	chr14:103908600-103920000	Weak transcription	Fetal Intestine Small	intestine
38	chr14:103909200-103916000	Weak transcription	NHDF-Ad	bronchial
39	chr14:103909600-103917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
41	chr14:103910400-103917800	Weak transcription	HSMM	muscle
42	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:103912000-103915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:103912000-103917800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:103912000-103921600	Weak transcription	NHLF	lung
46	chr14:103912200-103916600	Weak transcription	Stomach Mucosa	stomach
47	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
48	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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