Variant report

Variant	rs231228
Chromosome Location	chr19:36268771-36268772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
2	chr19:36267110..36269446-chr19:36272334..36274173,2	K562	blood:
3	chr19:36103075..36105092-chr19:36267150..36269666,2	K562	blood:
4	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:
5	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267049	Chromatin interaction
ENSG00000267626	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000225872	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11882183	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs231233	0.90[LWK][hapmap]
rs2619200	0.94[CHB][hapmap]
rs807488	0.96[AFR][1000 genomes];0.93[EUR][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36281800	Weak transcription	Liver	Liver
2	chr19:36267000-36268800	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr19:36267000-36268800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:36267000-36268800	Flanking Active TSS	HepG2	liver
5	chr19:36267000-36270400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:36267000-36271000	Weak transcription	Aorta	Aorta
7	chr19:36267000-36274200	Weak transcription	HSMMtube	muscle
8	chr19:36267000-36274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:36267200-36268800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr19:36267200-36269000	Weak transcription	Lung	lung
11	chr19:36267400-36268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:36267400-36268800	Weak transcription	Ovary	ovary
13	chr19:36267400-36269000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr19:36267400-36269000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr19:36267400-36269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:36267400-36269200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:36267400-36269600	Weak transcription	NHEK	skin
18	chr19:36267400-36269800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr19:36267400-36270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:36267400-36270800	Weak transcription	Right Ventricle	heart
21	chr19:36267400-36271000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:36267400-36271000	Weak transcription	Adipose Nuclei	Adipose
23	chr19:36267400-36271000	Weak transcription	Esophagus	oesophagus
24	chr19:36267400-36271000	Weak transcription	Gastric	stomach
25	chr19:36267400-36271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:36267400-36271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:36267400-36272000	Weak transcription	Primary T cells from cord blood	blood
28	chr19:36267400-36272200	Weak transcription	Left Ventricle	heart
29	chr19:36267400-36272200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:36267400-36272400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:36267400-36272600	Weak transcription	Colonic Mucosa	Colon
32	chr19:36267400-36273400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:36267400-36273400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:36267400-36275200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:36267400-36275400	Weak transcription	Primary B cells from cord blood	blood
36	chr19:36267400-36276000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:36267400-36276000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:36267400-36277600	Weak transcription	Right Atrium	heart
39	chr19:36267400-36277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
41	chr19:36267600-36268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:36267600-36268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:36267600-36268800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
44	chr19:36267600-36269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:36267600-36269400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:36267600-36269600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr19:36267600-36270600	Weak transcription	HSMM	muscle
48	chr19:36267600-36272000	Weak transcription	Placenta	Placenta
49	chr19:36267600-36273000	Weak transcription	Osteobl	bone
50	chr19:36267600-36275400	Weak transcription	Primary B cells from peripheral blood	blood

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