Variant report

Variant	rs188968
Chromosome Location	chr3:160114956-160114957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:159942894..159944891-chr3:160114084..160115883,2	K562	blood:
2	chr3:160113853..160115916-chr3:160167790..160169810,2	K562	blood:
3	chr3:160108609..160112041-chr3:160112048..160115304,5	K562	blood:

Variant related genes	Relation type
ENSG00000244078	Chromatin interaction
ENSG00000244040	Chromatin interaction
ENSG00000180044	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6773833	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	esv1801474	chr3:160012843-160153305	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
7	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
8	esv1795255	chr3:160089896-160153305	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	205 gene(s)	inside rSNPs	diseases
9	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases
10	nsv963540	chr3:160113220-160120396	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160069000-160115200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:160076200-160116200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:160083800-160116000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:160088800-160116200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:160088800-160116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:160092200-160116000	Weak transcription	Fetal Stomach	stomach
7	chr3:160092200-160116200	Weak transcription	Fetal Intestine Small	intestine
8	chr3:160092200-160116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:160093600-160116000	Weak transcription	Fetal Kidney	kidney
10	chr3:160094600-160116000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:160094800-160115800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:160094800-160116000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:160094800-160116000	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:160094800-160116600	Weak transcription	Left Ventricle	heart
15	chr3:160095000-160115800	Weak transcription	Fetal Intestine Large	intestine
16	chr3:160095000-160116000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:160095200-160115000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:160095400-160116000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:160098400-160115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:160098400-160116200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:160098400-160116400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:160098800-160115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:160098800-160115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:160098800-160116200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:160099400-160116000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:160103200-160116000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:160103600-160115400	Weak transcription	Thymus	Thymus
28	chr3:160103600-160116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:160109000-160115600	Weak transcription	Fetal Thymus	thymus
30	chr3:160109000-160116200	Weak transcription	Stomach Mucosa	stomach
31	chr3:160110000-160115200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:160110800-160116200	Weak transcription	Psoas Muscle	Psoas
33	chr3:160111800-160116200	Enhancers	Primary T cells from cord blood	blood
34	chr3:160112000-160115000	Weak transcription	Fetal Lung	lung
35	chr3:160113000-160115800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:160113000-160116000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:160113400-160115800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:160113400-160115800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:160113400-160115800	Enhancers	Dnd41	blood
40	chr3:160113400-160116000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:160113400-160116000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:160113600-160115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:160113600-160115800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:160113600-160115800	Weak transcription	HMEC	breast
45	chr3:160113600-160116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:160113600-160116000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:160113600-160116000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:160113600-160116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:160113600-160116000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:160113600-160116000	Weak transcription	NHLF	lung

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