Variant report

Variant	rs6735813
Chromosome Location	chr2:54822918-54822919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54822318..54824059-chr2:54829758..54831616,2	MCF-7	breast:
2	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
3	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
4	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:
5	chr2:54822696..54824811-chr2:54826177..54828033,3	K562	blood:
6	chr2:54818034..54820422-chr2:54821780..54823433,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10180713	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1047499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11885703	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11892788	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12104998	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12105792	0.89[EUR][1000 genomes]
rs12467581	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12468469	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12617036	0.86[EUR][1000 genomes]
rs12713260	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13016942	0.89[EUR][1000 genomes]
rs1367295	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1541854	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs171350	0.81[EUR][1000 genomes]
rs17344072	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17521078	0.84[EUR][1000 genomes]
rs1864493	0.88[EUR][1000 genomes]
rs2048371	0.81[EUR][1000 genomes]
rs2271322	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2292356	0.93[EUR][1000 genomes]
rs2292357	0.89[EUR][1000 genomes]
rs2931463	0.84[EUR][1000 genomes]
rs2931464	0.84[EUR][1000 genomes]
rs2941583	0.86[EUR][1000 genomes]
rs2941586	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2941587	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2941591	0.84[EUR][1000 genomes]
rs2941595	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2971877	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2971879	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2971883	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2971887	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3106204	0.87[EUR][1000 genomes]
rs354213	0.82[EUR][1000 genomes]
rs354228	0.82[EUR][1000 genomes]
rs354231	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3796014	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4233952	0.82[EUR][1000 genomes]
rs4444573	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4455199	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4519562	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592889	0.87[EUR][1000 genomes]
rs4671221	0.84[EUR][1000 genomes]
rs4671222	0.85[EUR][1000 genomes]
rs4671225	0.87[EUR][1000 genomes]
rs4671226	0.89[EUR][1000 genomes]
rs4671945	0.84[EUR][1000 genomes]
rs4671946	0.86[EUR][1000 genomes]
rs4671947	0.86[EUR][1000 genomes]
rs4671949	0.88[EUR][1000 genomes]
rs4671951	0.87[EUR][1000 genomes]
rs4671955	0.83[EUR][1000 genomes]
rs4671956	0.89[EUR][1000 genomes]
rs4671960	0.87[ASN][1000 genomes]
rs4671961	0.87[ASN][1000 genomes]
rs4990319	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6545411	0.80[EUR][1000 genomes]
rs6545413	0.80[EUR][1000 genomes]
rs6545414	0.80[EUR][1000 genomes]
rs6545415	0.80[EUR][1000 genomes]
rs6545418	0.82[EUR][1000 genomes]
rs6545419	0.83[EUR][1000 genomes]
rs6545427	0.87[EUR][1000 genomes]
rs6545429	0.89[EUR][1000 genomes]
rs6545434	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6704769	0.83[EUR][1000 genomes]
rs6706372	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724590	0.82[EUR][1000 genomes]
rs6729826	0.87[EUR][1000 genomes]
rs6731661	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6732949	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6734658	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6746306	0.82[EUR][1000 genomes]
rs6748816	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6761369	0.87[EUR][1000 genomes]
rs6761398	0.89[EUR][1000 genomes]
rs7558950	0.88[EUR][1000 genomes]
rs7563706	0.83[EUR][1000 genomes]
rs7589236	0.88[EUR][1000 genomes]
rs7598568	0.92[ASN][1000 genomes]
rs7607451	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907135	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv961318	chr2:54818096-54823449	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:54815400-54823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:54816800-54823000	Weak transcription	Aorta	Aorta
8	chr2:54816800-54823200	Weak transcription	Fetal Kidney	kidney
9	chr2:54816800-54823400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:54817000-54823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:54817000-54823200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
14	chr2:54817400-54823000	Weak transcription	Dnd41	blood
15	chr2:54817400-54823200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:54817400-54823400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:54817400-54825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:54817600-54823600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:54817600-54825000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:54817600-54825600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:54817800-54823000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:54817800-54823000	Weak transcription	NH-A	brain
23	chr2:54817800-54823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:54817800-54825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:54817800-54826200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:54817800-54826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:54818000-54824400	Weak transcription	HMEC	breast
28	chr2:54818000-54826200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:54818800-54823000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:54818800-54823000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:54819200-54823200	Strong transcription	Fetal Intestine Small	intestine
32	chr2:54819600-54823000	Strong transcription	Fetal Stomach	stomach
33	chr2:54819800-54823200	Strong transcription	Fetal Intestine Large	intestine
34	chr2:54820000-54823200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:54820200-54823600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:54820400-54823400	Enhancers	Primary B cells from cord blood	blood
37	chr2:54820600-54824200	Weak transcription	Fetal Brain Female	brain
38	chr2:54820600-54824600	Weak transcription	Fetal Brain Male	brain
39	chr2:54820800-54823000	Weak transcription	Thymus	Thymus
40	chr2:54820800-54823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:54820800-54823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:54820800-54826000	Weak transcription	Osteobl	bone
43	chr2:54820800-54826200	Weak transcription	Hela-S3	cervix
44	chr2:54821000-54823000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:54821000-54824400	Weak transcription	NHEK	skin
46	chr2:54821200-54824800	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:54821400-54823000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:54821400-54823400	Genic enhancers	GM12878-XiMat	blood
49	chr2:54821400-54823800	Weak transcription	HSMMtube	muscle
50	chr2:54821800-54823600	Genic enhancers	Primary B cells from peripheral blood	blood

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