Variant report

Variant	rs231225
Chromosome Location	chr19:36267518-36267519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:36265260-36267670	SK-N-SH	brain:	n/a	chr19:36266480-36266495
2	REST	chr19:36265701-36267655	H1-neurons	neurons:	n/a	chr19:36266904-36266912 chr19:36266100-36266118

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36245255..36250047-chr19:36263979..36267864,8	K562	blood:
2	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:
3	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
4	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
5	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
6	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
7	chr19:36267110..36269446-chr19:36272334..36274173,2	K562	blood:
8	chr19:36234786..36236387-chr19:36265803..36268215,2	MCF-7	breast:
9	chr19:36103075..36105092-chr19:36267150..36269666,2	K562	blood:
10	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
11	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:
12	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
13	chr19:36266549..36268656-chr19:36368007..36369573,2	K562	blood:
14	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP33	TF binding region
ENSG00000205155	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000267049	Chromatin interaction
ENSG00000267626	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267328	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000225872	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10419971	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11881839	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12980561	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12982672	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12983479	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs231233	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28504613	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34190650	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35067626	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35178229	0.97[EUR][1000 genomes]
rs4805139	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806203	0.90[EUR][1000 genomes]
rs4806206	0.80[ASN][1000 genomes]
rs73032130	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr19:36265600-36267800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:36265800-36268000	Active TSS	Fetal Kidney	kidney
3	chr19:36266000-36267600	Active TSS	HSMM	muscle
4	chr19:36266200-36267600	Active TSS	Osteobl	bone
5	chr19:36266800-36267600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36266800-36267600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:36266800-36267600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:36266800-36267600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:36266800-36267600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr19:36266800-36267800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:36266800-36268400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:36266800-36268600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36266800-36281800	Weak transcription	Liver	Liver
14	chr19:36267000-36267600	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:36267000-36267600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:36267000-36267600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr19:36267000-36267600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:36267000-36267600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr19:36267000-36267600	Flanking Active TSS	Thymus	Thymus
20	chr19:36267000-36267600	Flanking Active TSS	NH-A	brain
21	chr19:36267000-36267800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr19:36267000-36267800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:36267000-36267800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:36267000-36267800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:36267000-36267800	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr19:36267000-36267800	Flanking Active TSS	Fetal Thymus	thymus
27	chr19:36267000-36267800	Enhancers	Pancreas	Pancrea
28	chr19:36267000-36268000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:36267000-36268000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr19:36267000-36268000	Enhancers	Spleen	Spleen
31	chr19:36267000-36268000	Flanking Active TSS	Dnd41	blood
32	chr19:36267000-36268400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr19:36267000-36268400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr19:36267000-36268400	Enhancers	K562	blood
35	chr19:36267000-36268800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr19:36267000-36268800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:36267000-36268800	Flanking Active TSS	HepG2	liver
38	chr19:36267000-36270400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:36267000-36271000	Weak transcription	Aorta	Aorta
40	chr19:36267000-36274200	Weak transcription	HSMMtube	muscle
41	chr19:36267000-36274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:36267200-36267600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr19:36267200-36267600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr19:36267200-36267600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:36267200-36267600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:36267200-36267600	Flanking Active TSS	Fetal Brain Female	brain
47	chr19:36267200-36267600	Enhancers	Placenta	Placenta
48	chr19:36267200-36267600	Flanking Active TSS	Fetal Stomach	stomach
49	chr19:36267200-36267800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr19:36267200-36267800	Flanking Active TSS	Fetal Lung	lung

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