Variant report

Variant	rs2798904
Chromosome Location	chr1:144865454-144865455
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:

Variant related genes	Relation type
ENSG00000255148	Chromatin interaction
ENSG00000178104	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10910730	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1343471	1.00[EUR][1000 genomes]
rs1539655	1.00[YRI][hapmap]
rs1539656	1.00[CHB][hapmap]
rs1616118	1.00[CHB][hapmap]
rs1621108	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1625512	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1627675	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1630994	0.88[CHB][hapmap]
rs1663873	1.00[CHB][hapmap]
rs1664028	1.00[CHB][hapmap]
rs1698597	1.00[EUR][1000 genomes]
rs1747899	1.00[EUR][1000 genomes]
rs1747959	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778104	1.00[EUR][1000 genomes]
rs1778121	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1778142	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1778601	0.86[CHB][hapmap]
rs1778603	1.00[YRI][hapmap]
rs1778613	1.00[YRI][hapmap]
rs1778660	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs1778746	0.88[CHB][hapmap]
rs1778748	0.86[CHB][hapmap]
rs1778763	0.88[CHB][hapmap]
rs2489083	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs2590125	0.82[YRI][hapmap]
rs2653678	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653711	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2762723	0.88[ASW][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2762736	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2762863	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2762879	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2798851	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2798889	1.00[EUR][1000 genomes]
rs2798894	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2798895	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2799218	0.88[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap]
rs3795671	1.00[EUR][1000 genomes]
rs719603	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
2	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
3	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
4	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
5	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
6	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
8	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
9	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
10	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
11	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
12	nsv872206	chr1:144544101-144881389	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv872208	chr1:144560355-144875799	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv872209	chr1:144600291-144881389	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv872210	chr1:144617179-144924792	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	esv3359519	chr1:144674517-144950252	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	esv3493993	chr1:144674667-144950191	Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv3493994	chr1:144674667-144950191	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv1830469	chr1:144679113-145320996	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
20	nsv436611	chr1:144709882-144978624	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
21	nsv435736	chr1:144709964-144987027	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	esv18675	chr1:144810749-144882876	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
23	nsv946244	chr1:144811539-144897508	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv831315	chr1:144813808-144962476	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
25	nsv872211	chr1:144828599-144894697	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
26	esv2761854	chr1:144832255-144921857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
27	esv2630464	chr1:144841079-144893666	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
28	nsv872212	chr1:144850451-145073750	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
29	esv21270	chr1:144851761-144876388	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
30	nsv872213	chr1:144865454-145033984	Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144843800-144880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:144849800-144871600	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:144850000-144865600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:144850000-144865800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:144850000-144868800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:144850000-144870400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:144850000-144874000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:144850000-144875800	Strong transcription	Liver	Liver
9	chr1:144850000-144883200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr1:144850000-144883600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:144850000-144883800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr1:144850000-144885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:144850000-144886200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:144850000-144886200	Strong transcription	Osteobl	bone
15	chr1:144850000-144886400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:144850400-144883400	Strong transcription	Fetal Brain Female	brain
18	chr1:144850400-144886200	Strong transcription	HSMMtube	muscle
19	chr1:144850400-144886600	Strong transcription	Adipose Nuclei	Adipose
20	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
21	chr1:144851200-144884400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:144851600-144884000	Strong transcription	Placenta	Placenta
23	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
24	chr1:144854000-144867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:144854200-144870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:144854200-144886000	Weak transcription	Right Atrium	heart
27	chr1:144856600-144867800	Weak transcription	Fetal Thymus	thymus
28	chr1:144857800-144866200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:144857800-144869800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:144858200-144868600	Strong transcription	NHLF	lung
31	chr1:144859800-144870400	Weak transcription	GM12878-XiMat	blood
32	chr1:144859800-144880600	Strong transcription	K562	blood
33	chr1:144860000-144866200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:144860200-144867600	Weak transcription	Small Intestine	intestine
35	chr1:144860200-144867800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:144860200-144874600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:144860200-144886600	Strong transcription	HSMM	muscle
38	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:144860400-144867600	Weak transcription	Thymus	Thymus
40	chr1:144860400-144872800	Strong transcription	Brain Anterior Caudate	brain
41	chr1:144860400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:144860400-144886200	Strong transcription	Brain Substantia Nigra	brain
43	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:144860800-144872800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr1:144861200-144882000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:144861400-144872000	Strong transcription	Brain Angular Gyrus	brain
47	chr1:144861400-144872200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:144861400-144876200	Strong transcription	Left Ventricle	heart
49	chr1:144861400-144883200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:144861400-144884800	Strong transcription	NHDF-Ad	bronchial

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