Variant report

Variant	rs2555435
Chromosome Location	chr2:64453486-64453487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
2	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:

Variant related genes	Relation type
ENSG00000225889	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1019684	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10496110	0.92[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs11125993	0.80[JPT][hapmap]
rs13399701	0.80[JPT][hapmap]
rs1426708	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1969561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2114432	0.92[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2254856	0.84[EUR][1000 genomes]
rs2698525	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2698532	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2698542	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv874237	chr2:64402689-64479060	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64440400-64455000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64441400-64455200	Weak transcription	Esophagus	oesophagus
3	chr2:64442400-64454200	Weak transcription	Fetal Kidney	kidney
4	chr2:64442400-64454600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:64447800-64455000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64448000-64453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:64448000-64454400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:64448000-64455000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:64448200-64454400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:64448600-64455000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:64449000-64454600	Weak transcription	Liver	Liver
12	chr2:64449200-64454600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:64449400-64454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:64449400-64454200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:64449400-64455000	Weak transcription	Left Ventricle	heart
16	chr2:64449400-64455000	Weak transcription	Right Atrium	heart
17	chr2:64449600-64454000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:64450000-64454000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:64450000-64454800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:64450000-64455000	Weak transcription	Stomach Mucosa	stomach
21	chr2:64450200-64454600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:64450200-64454600	Weak transcription	Brain Anterior Caudate	brain
23	chr2:64450200-64454800	Weak transcription	Fetal Brain Female	brain
24	chr2:64450400-64453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:64450400-64453800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:64450400-64454000	Weak transcription	Brain Germinal Matrix	brain
27	chr2:64450400-64454200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:64450400-64454400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:64450400-64454400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:64450400-64454400	Weak transcription	Brain Substantia Nigra	brain
31	chr2:64450400-64454400	Weak transcription	Fetal Brain Male	brain
32	chr2:64450400-64455000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:64450400-64455000	Weak transcription	Fetal Lung	lung
34	chr2:64450400-64455000	Weak transcription	Fetal Stomach	stomach
35	chr2:64450400-64455000	Weak transcription	Fetal Thymus	thymus
36	chr2:64450400-64455000	Weak transcription	HMEC	breast
37	chr2:64450400-64455200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:64450600-64453800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:64450600-64454200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:64450600-64454400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:64450600-64454600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:64450600-64454800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:64450600-64454800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:64450800-64453600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:64450800-64453600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:64450800-64454800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:64450800-64455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:64450800-64455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:64450800-64455000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:64450800-64455200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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