Variant report

Variant	rs6923012
Chromosome Location	chr6:144820911-144820912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10428720	1.00[EUR][1000 genomes]
rs10457760	0.87[AMR][1000 genomes]
rs10457762	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12192454	1.00[EUR][1000 genomes]
rs12193726	0.86[EUR][1000 genomes]
rs12194050	1.00[CEU][hapmap]
rs12196635	1.00[CEU][hapmap]
rs12200994	1.00[CEU][hapmap]
rs12204715	1.00[CEU][hapmap]
rs12204844	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12205085	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12205552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12206968	1.00[EUR][1000 genomes]
rs12207034	0.86[EUR][1000 genomes]
rs12208806	1.00[CEU][hapmap]
rs12210449	1.00[CEU][hapmap]
rs12210566	1.00[CEU][hapmap]
rs12211195	1.00[EUR][1000 genomes]
rs12212215	0.86[EUR][1000 genomes]
rs12212750	1.00[CEU][hapmap]
rs12215350	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12215997	0.87[EUR][1000 genomes]
rs12216212	1.00[CEU][hapmap]
rs28362044	1.00[EUR][1000 genomes]
rs28733692	1.00[EUR][1000 genomes]
rs7749416	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9484883	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9484885	1.00[EUR][1000 genomes]
rs9496992	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9496993	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144764400-144838800	Weak transcription	A549	lung
2	chr6:144788800-144821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:144789400-144822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:144792400-144823800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr6:144792400-144824400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr6:144792400-144826000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr6:144795600-144822600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:144795800-144849800	Weak transcription	HMEC	breast
9	chr6:144797400-144822000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:144800000-144829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:144803200-144826800	Weak transcription	Fetal Brain Male	brain
12	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:144803800-144821800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:144804200-144821400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:144805000-144821200	Strong transcription	Fetal Thymus	thymus
16	chr6:144807200-144828800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
18	chr6:144808400-144822600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:144812000-144823000	Weak transcription	Small Intestine	intestine
20	chr6:144812400-144825400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:144812400-144835000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:144812400-144840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:144812400-144844800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
25	chr6:144812600-144849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:144812600-144849600	Weak transcription	NH-A	brain
27	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:144813400-144825600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:144813400-144850000	Weak transcription	Colonic Mucosa	Colon
30	chr6:144813600-144824000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:144813600-144828800	Weak transcription	Right Ventricle	heart
32	chr6:144813600-144834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:144814600-144822600	Strong transcription	Adipose Nuclei	Adipose
34	chr6:144814800-144834000	Weak transcription	NHLF	lung
35	chr6:144815000-144821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:144815000-144821800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:144815000-144836200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
39	chr6:144815200-144822400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:144815200-144835000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:144815200-144881000	Weak transcription	NHEK	skin
42	chr6:144815400-144828600	Weak transcription	Ovary	ovary
43	chr6:144816600-144821400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:144816600-144829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:144816800-144821200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:144816800-144824400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:144817000-144821200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:144817000-144823200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:144817000-144823400	Strong transcription	HepG2	liver

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