Variant report

Variant	rs16971507
Chromosome Location	chr15:41394445-41394446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41391634..41395412-chr15:41405784..41409599,4	K562	blood:
2	chr15:41391907..41394522-chr15:41395092..41397540,2	K562	blood:
3	chr15:41393874..41395893-chr15:41406370..41408669,2	K562	blood:

Variant related genes	Relation type
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11070319	1.00[MEX][hapmap]
rs16971263	1.00[MEX][hapmap]
rs16971264	0.88[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs16971463	1.00[MEX][hapmap]
rs2007255	1.00[MEX][hapmap]
rs28505814	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2925344	1.00[MEX][hapmap]
rs2927057	0.85[AMR][1000 genomes]
rs3101438	1.00[MEX][hapmap]
rs3101440	1.00[MEX][hapmap]
rs474351	1.00[MEX][hapmap]
rs4924530	0.83[AMR][1000 genomes]
rs496499	1.00[MEX][hapmap]
rs56088876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs566929	0.85[AMR][1000 genomes]
rs58451492	1.00[AMR][1000 genomes]
rs58952535	1.00[AMR][1000 genomes]
rs59371712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs690773	1.00[MEX][hapmap]
rs691160	1.00[AMR][1000 genomes]
rs7162972	1.00[AMR][1000 genomes]
rs7169092	1.00[MEX][hapmap]
rs7172555	1.00[MEX][hapmap]
rs7172558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7172580	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7174513	1.00[MEX][hapmap]
rs74012203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012218	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014742	0.83[AFR][1000 genomes]
rs74014744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014747	0.85[AMR][1000 genomes]
rs74014749	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8024014	0.83[AMR][1000 genomes]
rs8026099	1.00[AMR][1000 genomes]
rs8027150	1.00[AMR][1000 genomes]
rs8030958	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs8043232	1.00[MEX][hapmap]
rs9806344	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41361200-41407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41378000-41397600	Weak transcription	Small Intestine	intestine
3	chr15:41383200-41406800	Weak transcription	A549	lung
4	chr15:41383800-41407400	Weak transcription	Esophagus	oesophagus
5	chr15:41384000-41407400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:41384200-41395600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41384400-41396000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:41384400-41396000	Weak transcription	Psoas Muscle	Psoas
9	chr15:41384400-41407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:41385200-41406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:41386200-41398400	Weak transcription	Gastric	stomach
12	chr15:41386200-41407400	Weak transcription	Aorta	Aorta
13	chr15:41386600-41407400	Weak transcription	Colonic Mucosa	Colon
14	chr15:41386800-41396400	Weak transcription	Fetal Brain Male	brain
15	chr15:41386800-41398200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:41386800-41398400	Weak transcription	Brain Angular Gyrus	brain
17	chr15:41386800-41405400	Weak transcription	Spleen	Spleen
18	chr15:41386800-41406800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:41386800-41406800	Weak transcription	Right Ventricle	heart
20	chr15:41386800-41407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:41386800-41407200	Weak transcription	HSMMtube	muscle
22	chr15:41386800-41407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:41387000-41398200	Weak transcription	Lung	lung
24	chr15:41387000-41400400	Weak transcription	Brain Germinal Matrix	brain
25	chr15:41387200-41395200	Weak transcription	Brain Substantia Nigra	brain
26	chr15:41387200-41399200	Weak transcription	GM12878-XiMat	blood
27	chr15:41387200-41406000	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:41387200-41406600	Weak transcription	Pancreas	Pancrea
29	chr15:41387400-41407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:41388000-41398400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:41388000-41406600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:41388200-41406600	Weak transcription	Adipose Nuclei	Adipose
33	chr15:41388400-41406400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:41388600-41395000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:41388600-41395000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:41388600-41395000	Weak transcription	Osteobl	bone
37	chr15:41388600-41396000	Weak transcription	HUVEC	blood vessel
38	chr15:41388600-41396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:41388600-41398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:41388600-41398400	Weak transcription	Left Ventricle	heart
41	chr15:41388600-41400200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:41388600-41400800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:41388600-41402200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:41388600-41404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:41388600-41405600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr15:41388600-41405800	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:41388600-41406600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:41388600-41406600	Weak transcription	Ovary	ovary
49	chr15:41388600-41406600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:41388600-41406800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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