Variant report

Variant	rs6681268
Chromosome Location	chr1:228878275-228878276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228878255-228878491	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228871721..228874007-chr1:228877352..228880161,2	MCF-7	breast:
2	chr1:228872086..228874934-chr1:228877939..228879672,2	MCF-7	breast:
3	chr1:228878069..228881022-chr1:228881765..228883502,2	MCF-7	breast:

Variant related genes	Relation type
RHOU	TF binding region
ENSG00000116574	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1006797	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10489542	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108502	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12059178	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12070785	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12075157	0.83[ASN][1000 genomes]
rs12076649	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12077418	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078927	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12092986	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12096381	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535129	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2009564	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2180162	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207704	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295255	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34036301	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806285	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820265	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654625	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6667385	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7532644	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7554565	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228872400-228880200	Weak transcription	Left Ventricle	heart
2	chr1:228872600-228878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:228872600-228880600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:228872600-228881200	Weak transcription	Esophagus	oesophagus
5	chr1:228872600-228884400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:228873200-228878400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:228873200-228879000	Weak transcription	Ovary	ovary
8	chr1:228873200-228884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:228873400-228879000	Weak transcription	Small Intestine	intestine
10	chr1:228873600-228878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:228873600-228878400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:228873600-228879000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:228873600-228879000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:228873800-228878400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:228873800-228878600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:228873800-228879000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:228873800-228879000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:228873800-228879000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:228873800-228880200	Weak transcription	Thymus	Thymus
20	chr1:228873800-228882800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:228873800-228884200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:228873800-228884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:228874000-228879200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:228874000-228879400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:228874000-228881800	Genic enhancers	Liver	Liver
26	chr1:228874200-228880400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:228874400-228884000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:228874600-228879000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:228874600-228879800	Weak transcription	A549	lung
30	chr1:228875000-228878800	Genic enhancers	Fetal Lung	lung
31	chr1:228875000-228881000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:228875000-228884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:228875400-228879400	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
34	chr1:228875400-228879400	Genic enhancers	Gastric	stomach
35	chr1:228875600-228883200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:228875800-228878600	Weak transcription	Colonic Mucosa	Colon
37	chr1:228875800-228881000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:228875800-228884000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:228876200-228883200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:228876600-228878800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:228876600-228882600	Strong transcription	Placenta	Placenta
42	chr1:228876600-228883400	Strong transcription	Fetal Intestine Small	intestine
43	chr1:228876800-228884800	Weak transcription	Fetal Brain Male	brain
44	chr1:228877000-228879000	Weak transcription	Stomach Mucosa	stomach
45	chr1:228877000-228883200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:228877000-228884800	Weak transcription	Fetal Kidney	kidney
47	chr1:228877200-228878400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:228877200-228879000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr1:228877200-228879000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:228877200-228880200	Strong transcription	Fetal Thymus	thymus

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