Variant report

Variant	rs62430707
Chromosome Location	chr6:143166401-143166402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143164077..143167005-chr6:143171548..143173289,2	K562	blood:
2	chr6:143164226..143166914-chr6:143265951..143267932,2	MCF-7	breast:
3	chr20:45985147..45987489-chr6:143164648..143166679,2	MCF-7	breast:
4	chr6:143160497..143162652-chr6:143164958..143167111,2	MCF-7	breast:
5	chr6:143148679..143151858-chr6:143163434..143166597,3	K562	blood:
6	chr6:143163087..143164767-chr6:143165602..143167738,2	K562	blood:
7	chr6:143149262..143152050-chr6:143165097..143166681,2	K562	blood:

Variant related genes	Relation type
ENSG00000101040	Chromatin interaction
ENSG00000010818	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11155265	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11969311	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12190015	0.87[ASN][1000 genomes]
rs12190804	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12192692	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12194338	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12194808	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12196693	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12199711	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12201734	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12201987	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12203708	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12205948	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12206012	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12208876	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12210048	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210301	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214573	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17444447	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2142938	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2184364	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2876528	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4349826	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4492208	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62430709	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62430712	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62430713	0.87[EUR][1000 genomes]
rs62432360	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62432362	0.86[EUR][1000 genomes]
rs6905453	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912129	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6925118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6927858	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728589	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72990282	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995085	0.80[EUR][1000 genomes]
rs7758383	0.90[ASN][1000 genomes]
rs972119	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998313	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:143144800-143166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:143162400-143166800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:143162600-143166800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:143162600-143166800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:143162800-143166600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:143163000-143166800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:143163000-143167400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:143163000-143167800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr6:143163600-143166800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:143164200-143166600	Enhancers	HMEC	breast
11	chr6:143164200-143166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:143164200-143167200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:143164200-143167600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr6:143164200-143168400	Enhancers	Fetal Thymus	thymus
15	chr6:143164400-143166600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:143164400-143166800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:143164400-143167000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:143164600-143166600	Enhancers	Fetal Brain Female	brain
19	chr6:143164600-143166800	Enhancers	Thymus	Thymus
20	chr6:143165000-143166800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:143165000-143168400	Enhancers	Dnd41	blood
22	chr6:143165200-143166800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:143165200-143166800	Enhancers	Fetal Stomach	stomach
24	chr6:143165200-143167200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:143165200-143167400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:143165200-143168200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:143165200-143168400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:143165200-143169000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:143165400-143166600	Enhancers	Adipose Nuclei	Adipose
30	chr6:143165400-143166600	Enhancers	Brain Substantia Nigra	brain
31	chr6:143165400-143166600	Enhancers	Psoas Muscle	Psoas
32	chr6:143165400-143166600	Enhancers	Stomach Mucosa	stomach
33	chr6:143165400-143166600	Enhancers	HSMM	muscle
34	chr6:143165400-143167000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:143165400-143167400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:143165400-143167600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:143165400-143168200	Flanking Active TSS	Osteobl	bone
38	chr6:143165400-143168600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr6:143165600-143166600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:143165600-143166600	Enhancers	Fetal Intestine Large	intestine
41	chr6:143165600-143166600	Enhancers	Fetal Intestine Small	intestine
42	chr6:143165600-143166600	Enhancers	Fetal Lung	lung
43	chr6:143165600-143166600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr6:143165600-143166800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:143165600-143166800	Enhancers	Aorta	Aorta
46	chr6:143165600-143166800	Flanking Active TSS	Fetal Brain Male	brain
47	chr6:143165600-143167200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr6:143165600-143167600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr6:143165600-143168400	Enhancers	Small Intestine	intestine
50	chr6:143165600-143168600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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