Variant report

Variant	rs72750438
Chromosome Location	chr9:95019350-95019351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95005995..95010292-chr9:95015147..95019470,4	K562	blood:
2	chr9:95018820..95020529-chr9:95042331..95043865,2	K562	blood:
3	chr9:95017702..95020249-chr9:95048067..95050193,2	K562	blood:
4	chr9:95017965..95021110-chr9:95023019..95027040,3	K562	blood:

Variant related genes	Relation type
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs15717	0.83[EUR][1000 genomes]
rs16908281	0.83[EUR][1000 genomes]
rs17518691	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17518754	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17519453	1.00[AFR][1000 genomes]
rs17590748	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17591007	0.83[EUR][1000 genomes]
rs17677599	0.86[ASN][1000 genomes]
rs17678735	0.83[EUR][1000 genomes]
rs2044540	0.83[EUR][1000 genomes]
rs2230405	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236343	0.91[ASN][1000 genomes]
rs2236344	0.83[EUR][1000 genomes]
rs2236529	0.83[EUR][1000 genomes]
rs2273860	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28365880	0.83[EUR][1000 genomes]
rs34860658	1.00[AFR][1000 genomes]
rs3736834	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736836	0.83[EUR][1000 genomes]
rs3737147	0.91[ASN][1000 genomes]
rs3758228	0.83[EUR][1000 genomes]
rs3758230	0.83[EUR][1000 genomes]
rs3758231	0.83[EUR][1000 genomes]
rs3758232	0.83[EUR][1000 genomes]
rs3780340	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3780341	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41276835	0.83[EUR][1000 genomes]
rs41277739	0.83[EUR][1000 genomes]
rs41280223	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41297183	0.83[EUR][1000 genomes]
rs41301527	0.83[EUR][1000 genomes]
rs41307467	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41312230	0.83[EUR][1000 genomes]
rs4298540	0.83[EUR][1000 genomes]
rs59083571	0.91[ASN][1000 genomes]
rs59627747	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61742574	0.83[EUR][1000 genomes]
rs67546506	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72750403	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750404	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750405	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750407	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750408	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750409	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750418	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750419	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750420	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750421	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750422	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750426	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750427	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750430	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750431	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750432	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750433	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750434	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750437	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750441	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750445	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750447	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72750448	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750449	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750450	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750451	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750454	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750456	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750457	1.00[AMR][1000 genomes]
rs72750458	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750463	0.83[EUR][1000 genomes]
rs72750465	0.83[EUR][1000 genomes]
rs72750466	0.83[EUR][1000 genomes]
rs72750468	0.83[EUR][1000 genomes]
rs72750469	0.83[EUR][1000 genomes]
rs72750472	0.83[EUR][1000 genomes]
rs72750474	0.83[EUR][1000 genomes]
rs72750477	0.83[EUR][1000 genomes]
rs72750478	0.83[EUR][1000 genomes]
rs72750479	0.83[EUR][1000 genomes]
rs72750482	0.83[EUR][1000 genomes]
rs72750483	0.83[EUR][1000 genomes]
rs72750485	0.83[EUR][1000 genomes]
rs72750487	0.83[EUR][1000 genomes]
rs72750490	0.83[EUR][1000 genomes]
rs72750493	0.83[EUR][1000 genomes]
rs72750494	0.83[EUR][1000 genomes]
rs72750496	1.00[AFR][1000 genomes]
rs72750498	0.83[EUR][1000 genomes]
rs72750500	0.83[EUR][1000 genomes]
rs72750501	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72750502	0.83[EUR][1000 genomes]
rs72752403	0.83[EUR][1000 genomes]
rs72752404	0.83[EUR][1000 genomes]
rs72752405	0.83[EUR][1000 genomes]
rs72752406	0.83[EUR][1000 genomes]
rs72752411	0.83[EUR][1000 genomes]
rs72752417	1.00[AFR][1000 genomes]
rs72752419	0.83[EUR][1000 genomes]
rs72752422	1.00[AFR][1000 genomes]
rs72752425	0.83[EUR][1000 genomes]
rs72752427	0.83[EUR][1000 genomes]
rs72752431	0.83[EUR][1000 genomes]
rs72752435	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72752442	0.83[EUR][1000 genomes]
rs72752443	0.83[EUR][1000 genomes]
rs72752444	0.83[EUR][1000 genomes]
rs72752445	0.83[EUR][1000 genomes]
rs72752446	0.83[EUR][1000 genomes]
rs72752449	0.83[EUR][1000 genomes]
rs72752453	0.83[EUR][1000 genomes]
rs72752454	0.83[EUR][1000 genomes]
rs72752457	0.83[EUR][1000 genomes]
rs72752458	0.83[EUR][1000 genomes]
rs72752460	0.83[EUR][1000 genomes]
rs72752463	0.83[EUR][1000 genomes]
rs72752467	1.00[AFR][1000 genomes]
rs72752474	1.00[AFR][1000 genomes]
rs7872423	0.83[ASN][1000 genomes]
rs921122	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv972780	chr9:95008644-95049016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94982800-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:94990400-95038200	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr9:94991200-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:94991200-95052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:94991200-95053600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:94991400-95050400	Strong transcription	Dnd41	blood
9	chr9:94991400-95052400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94991400-95053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:94994000-95053000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:94994200-95038000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:94994400-95038600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:94994600-95051200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr9:94995600-95038000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:94995600-95038600	Strong transcription	Primary T cells from cord blood	blood
21	chr9:94996000-95048600	Strong transcription	Fetal Stomach	stomach
22	chr9:94996200-95051400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr9:94996200-95051400	Strong transcription	Fetal Thymus	thymus
24	chr9:94996200-95052000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr9:94996400-95051400	Strong transcription	Fetal Muscle Leg	muscle
26	chr9:94996400-95052000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr9:94996600-95035000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:94996600-95038400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:94996800-95037400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:94996800-95038200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr9:94996800-95042600	Strong transcription	Fetal Brain Female	brain
32	chr9:94997000-95042800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:94998600-95042800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:94998600-95050600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr9:94998600-95051200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr9:94998600-95051600	Strong transcription	Adipose Nuclei	Adipose
37	chr9:94998800-95045000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:94998800-95048000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:94998800-95049600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:94998800-95050200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:94998800-95051400	Strong transcription	Fetal Intestine Large	intestine
42	chr9:94999000-95027400	Strong transcription	Fetal Lung	lung
43	chr9:94999000-95038400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:94999000-95038600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr9:94999000-95043200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr9:94999000-95048800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:94999400-95051000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr9:94999600-95049600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr9:94999800-95027800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:94999800-95048400	Strong transcription	Stomach Smooth Muscle	stomach

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