Variant report

Variant	rs17033423
Chromosome Location	chr4:104014400-104014401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:104012846..104015540-chr4:104018852..104022856,5	K562	blood:
2	chr4:103994623..103998824-chr4:104011686..104015177,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164039	Chromatin interaction
ENSG00000164038	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10516497	0.87[CEU][hapmap]
rs11734396	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12502620	0.83[EUR][1000 genomes]
rs12505012	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12506575	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12508128	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17217250	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17283278	0.94[CEU][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243682	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276974	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276975	0.88[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290943	0.94[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2615538	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2615541	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2615542	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2623062	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2623063	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2623069	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2623076	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2623082	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711888	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711889	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711891	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2711893	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711895	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2711896	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711900	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2711901	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720447	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720449	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720450	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720451	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720452	0.89[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720453	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720455	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720456	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720457	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720463	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720465	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720467	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2720470	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3816642	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4698879	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55708783	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55777543	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58477215	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59355472	0.80[EUR][1000 genomes]
rs68023422	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6830082	0.94[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6847142	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6847357	0.94[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72665085	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72665089	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72666813	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7435875	0.82[EUR][1000 genomes]
rs7672974	0.94[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9994654	0.87[CEU][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	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3379179	chr4:104014003-104015951	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103998200-104020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:103998400-104018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:103998600-104020200	Weak transcription	Fetal Brain Male	brain
4	chr4:103998800-104019600	Weak transcription	NHEK	skin
5	chr4:103999000-104020200	Weak transcription	Hela-S3	cervix
6	chr4:104000200-104016400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:104000400-104014600	Strong transcription	Fetal Intestine Large	intestine
8	chr4:104000600-104016400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:104001800-104015000	Strong transcription	Fetal Lung	lung
10	chr4:104005400-104014800	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:104005400-104015600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:104005400-104016400	Strong transcription	Fetal Thymus	thymus
13	chr4:104006400-104014400	Strong transcription	Colon Smooth Muscle	Colon
14	chr4:104006800-104014600	Strong transcription	Fetal Kidney	kidney
15	chr4:104007000-104017800	Weak transcription	Stomach Mucosa	stomach
16	chr4:104008000-104019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:104008600-104015200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:104009000-104020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:104010200-104018000	Weak transcription	Colonic Mucosa	Colon
20	chr4:104010200-104019600	Weak transcription	Spleen	Spleen
21	chr4:104010600-104019200	Weak transcription	Esophagus	oesophagus
22	chr4:104011000-104016000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:104011200-104019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:104011800-104018600	Weak transcription	Small Intestine	intestine
25	chr4:104012000-104018800	Weak transcription	HSMMtube	muscle
26	chr4:104012000-104019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:104012000-104019600	Weak transcription	HMEC	breast
28	chr4:104012200-104015000	Weak transcription	HUVEC	blood vessel
29	chr4:104012200-104016200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:104012200-104018600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:104012200-104019200	Weak transcription	Placenta	Placenta
32	chr4:104012200-104019200	Weak transcription	Psoas Muscle	Psoas
33	chr4:104012200-104019400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:104012200-104019400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:104012200-104019600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:104012200-104019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:104012200-104019800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:104012400-104015000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:104012400-104016000	Weak transcription	HepG2	liver
40	chr4:104012400-104016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:104012400-104016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:104012400-104018000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:104012400-104018400	Weak transcription	Pancreas	Pancrea
44	chr4:104012400-104018600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:104012400-104018600	Weak transcription	Gastric	stomach
46	chr4:104012400-104018600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:104012400-104018800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:104012400-104018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:104012400-104018800	Weak transcription	Right Ventricle	heart
50	chr4:104012400-104018800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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