Variant report

Variant	rs16972927
Chromosome Location	chr15:42533595-42533596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42533593..42536142-chr15:42545624..42547945,2	K562	blood:
2	chr15:42532284..42534911-chr15:42549043..42552041,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16972930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972969	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973015	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973018	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973177	0.83[EUR][1000 genomes]
rs16973182	0.83[EUR][1000 genomes]
rs16973184	0.83[EUR][1000 genomes]
rs16973188	0.83[EUR][1000 genomes]
rs16973200	1.00[EUR][1000 genomes]
rs16973206	0.83[EUR][1000 genomes]
rs17593	0.83[EUR][1000 genomes]
rs28364383	0.83[EUR][1000 genomes]
rs28364387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364399	1.00[EUR][1000 genomes]
rs28364423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307925	0.83[EUR][1000 genomes]
rs4486855	0.83[EUR][1000 genomes]
rs4516202	0.83[EUR][1000 genomes]
rs7167683	0.83[EUR][1000 genomes]
rs7174880	0.83[EUR][1000 genomes]
rs728507	0.83[EUR][1000 genomes]
rs728508	0.83[EUR][1000 genomes]
rs728509	0.83[EUR][1000 genomes]
rs728510	1.00[EUR][1000 genomes]
rs8024452	0.83[EUR][1000 genomes]
rs8026890	0.83[EUR][1000 genomes]
rs8027800	0.83[EUR][1000 genomes]
rs8033108	1.00[EUR][1000 genomes]
rs8033734	0.83[EUR][1000 genomes]
rs8033882	0.83[EUR][1000 genomes]
rs8033960	0.83[EUR][1000 genomes]
rs8035332	0.83[EUR][1000 genomes]
rs8035521	0.83[EUR][1000 genomes]
rs8038771	0.83[EUR][1000 genomes]
rs8038967	0.83[EUR][1000 genomes]
rs8039470	0.83[EUR][1000 genomes]
rs8040129	0.83[EUR][1000 genomes]
rs8040726	1.00[EUR][1000 genomes]
rs934877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1799961	chr15:42522773-42545863	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1832380	chr15:42522773-42545863	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42501000-42534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:42501000-42536600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42501000-42536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:42501000-42538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:42501800-42536800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:42502000-42535000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:42502200-42534000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:42502200-42536600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:42502800-42535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:42502800-42536400	Strong transcription	Fetal Muscle Leg	muscle
12	chr15:42503200-42544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:42509400-42535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:42511800-42536800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:42513800-42534800	Strong transcription	Liver	Liver
16	chr15:42514000-42534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:42514000-42535200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:42514200-42535200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:42514200-42535200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:42514400-42533600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr15:42514400-42534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:42514400-42535000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:42514400-42535000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr15:42514400-42537200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:42514600-42535000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:42515000-42535400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:42515000-42544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:42515200-42534800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:42515400-42535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:42515600-42535000	Strong transcription	Primary B cells from cord blood	blood
33	chr15:42516000-42535200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr15:42519200-42536400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:42519200-42543800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:42519200-42543800	Weak transcription	Gastric	stomach
37	chr15:42519400-42562800	Weak transcription	Fetal Heart	heart
38	chr15:42520200-42561000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr15:42521000-42551000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:42522000-42535200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:42523400-42534800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:42523800-42536600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:42525000-42535200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:42525200-42535200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:42525400-42534800	Strong transcription	HUVEC	blood vessel
46	chr15:42525400-42535000	Strong transcription	Fetal Brain Female	brain
47	chr15:42525600-42534800	Strong transcription	Fetal Intestine Large	intestine
48	chr15:42525800-42535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:42526400-42535000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:42527200-42548200	Weak transcription	Placenta Amnion	Placenta Amnion

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