Variant report

Variant	rs72963658
Chromosome Location	chr4:151933928-151933929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151933368..151935569-chr4:151963455..151965869,2	K562	blood:
2	chr4:151932388..151938493-chr4:152018908..152023577,12	K562	blood:
3	chr4:151932857..151934831-chr4:151936345..151938221,2	MCF-7	breast:
4	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
5	chr4:151912223..151914481-chr4:151933380..151935529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201264	Chromatin interaction
ENSG00000145425	Chromatin interaction
ENSG00000198589	Chromatin interaction
ENSG00000208797	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59686260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741557	1.00[AMR][1000 genomes]
rs72963639	1.00[AMR][1000 genomes]
rs72963663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
23	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
25	nsv881254	chr4:151829824-151936149	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
26	nsv880429	chr4:151844476-151936149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
27	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
28	nsv461678	chr4:151865522-151980636	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	23 gene(s)	inside rSNPs	diseases
29	nsv595692	chr4:151865522-151980636	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv595699	chr4:151880765-151968295	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv869553	chr4:151892289-152003402	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
32	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151904200-151935600	Weak transcription	Aorta	Aorta
2	chr4:151920000-151935400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:151920800-151934000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:151920800-151934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:151921400-151934200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:151921600-151934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:151921800-151934000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:151921800-151934400	Weak transcription	Colonic Mucosa	Colon
9	chr4:151922000-151934000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:151922200-151934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:151922600-151935600	Weak transcription	Lung	lung
12	chr4:151922800-151934000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:151922800-151935400	Weak transcription	Placenta	Placenta
14	chr4:151922800-151935600	Weak transcription	Esophagus	oesophagus
15	chr4:151923000-151934000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:151923000-151934000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:151923000-151935200	Weak transcription	Ovary	ovary
18	chr4:151923000-151935400	Weak transcription	Pancreas	Pancrea
19	chr4:151923000-151935600	Weak transcription	Gastric	stomach
20	chr4:151923200-151934600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:151923200-151935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:151924000-151934800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:151925000-151934200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:151925600-151934400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:151925800-151934000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:151925800-151934200	Weak transcription	NH-A	brain
27	chr4:151926200-151934200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:151928400-151935600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:151931400-151934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:151932400-151934000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr4:151932400-151934600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:151932600-151935200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:151932800-151934200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:151932800-151934800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:151933000-151934200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:151933000-151934800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:151933000-151935600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr4:151933000-151935800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr4:151933000-151938000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:151933200-151934000	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:151933200-151934000	Weak transcription	Fetal Stomach	stomach
42	chr4:151933200-151934000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr4:151933200-151934000	Enhancers	HepG2	liver
44	chr4:151933200-151934400	Enhancers	Liver	Liver
45	chr4:151933200-151934800	Enhancers	Small Intestine	intestine
46	chr4:151933200-151936000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr4:151933400-151934600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr4:151933400-151934600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr4:151933400-151934600	Enhancers	Fetal Lung	lung
50	chr4:151933400-151935200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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