Variant report

Variant	rs12034268
Chromosome Location	chr1:228366187-228366188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228361831..228364310-chr1:228365605..228367870,2	MCF-7	breast:
2	chr1:228362275..228366557-chr1:228367502..228371326,4	MCF-7	breast:
3	chr1:228291103..228294046-chr1:228365844..228368081,3	K562	blood:
4	chr1:228301175..228302855-chr1:228364193..228366742,2	K562	blood:
5	chr1:228365538..228367134-chr1:228386503..228389326,2	K562	blood:
6	chr1:228352925..228354845-chr1:228364134..228367346,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143793	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10127705	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10495278	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10495279	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916266	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1094602	0.96[EUR][1000 genomes]
rs1094603	0.96[EUR][1000 genomes]
rs11577976	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580599	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11581169	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11582369	0.88[EUR][1000 genomes]
rs11586055	0.80[EUR][1000 genomes]
rs12039801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771486	0.88[EUR][1000 genomes]
rs1803695	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28587961	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34687764	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3795773	0.96[EUR][1000 genomes]
rs3795774	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41303083	0.96[EUR][1000 genomes]
rs4653906	0.86[EUR][1000 genomes]
rs4653908	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4653909	0.86[EUR][1000 genomes]
rs4653914	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61501937	0.80[EUR][1000 genomes]
rs61825156	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61825157	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61825159	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61827462	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6663726	0.86[EUR][1000 genomes]
rs6668719	0.86[EUR][1000 genomes]
rs6685150	0.88[ASN][1000 genomes]
rs7530253	0.96[EUR][1000 genomes]
rs7537552	0.86[EUR][1000 genomes]
rs9287011	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9970544	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
10	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
12	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
13	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
14	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
15	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
2	chr1:228354600-228370400	Weak transcription	Right Atrium	heart
3	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
5	chr1:228354800-228366400	Weak transcription	Liver	Liver
6	chr1:228354800-228367000	Weak transcription	Osteobl	bone
7	chr1:228354800-228370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:228354800-228371200	Weak transcription	HSMMtube	muscle
9	chr1:228354800-228373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:228355000-228370600	Weak transcription	HepG2	liver
11	chr1:228355000-228372400	Weak transcription	Stomach Mucosa	stomach
12	chr1:228355000-228373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:228355000-228373200	Weak transcription	Hela-S3	cervix
14	chr1:228361200-228366400	Genic enhancers	Fetal Stomach	stomach
15	chr1:228362600-228368600	Weak transcription	Psoas Muscle	Psoas
16	chr1:228362800-228366600	Strong transcription	Primary T cells from cord blood	blood
17	chr1:228363200-228366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:228363200-228367200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:228363200-228368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:228363200-228373200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:228363200-228373200	Weak transcription	Fetal Thymus	thymus
22	chr1:228363400-228367200	Weak transcription	NHLF	lung
23	chr1:228363400-228367400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:228363400-228375000	Weak transcription	Esophagus	oesophagus
25	chr1:228363400-228375800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:228363400-228386400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:228363600-228368000	Weak transcription	NHEK	skin
28	chr1:228363600-228373200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:228363600-228374800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:228363800-228368800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:228363800-228373400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:228363800-228385200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:228364000-228369200	Weak transcription	Colonic Mucosa	Colon
34	chr1:228364000-228371600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:228364000-228373000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:228364000-228373000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:228364000-228373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:228364000-228384800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:228364200-228366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:228364200-228366800	Strong transcription	Right Ventricle	heart
41	chr1:228364200-228371800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:228364400-228366600	Weak transcription	Dnd41	blood
43	chr1:228364400-228368800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:228364400-228386600	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:228364400-228388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:228364600-228366400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:228364600-228369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:228364600-228373000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:228364600-228386600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:228364800-228366200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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