Variant report

Variant	rs2223997
Chromosome Location	chr6:71212134-71212135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71189111..71190844-chr6:71211167..71213959,2	K562	blood:
2	chr6:71212061..71213722-chr6:71216288..71218421,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10080714	0.88[AFR][1000 genomes]
rs10440813	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10485117	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12332812	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs12332923	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869217	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869242	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869301	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2207424	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28555262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28885692	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846749	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs747454	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9294867	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs9294869	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9294870	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9294873	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294875	0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446243	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446244	0.83[YRI][hapmap]
rs9446247	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446251	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446256	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446257	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446259	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446260	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446261	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446262	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446263	0.93[AFR][1000 genomes]
rs9446264	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446265	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446266	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455091	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455096	1.00[YRI][hapmap]
rs9455102	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455103	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9455107	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455109	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455115	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455119	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455120	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455122	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455123	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455124	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455126	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455127	0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455128	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455131	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455134	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455135	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455136	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455137	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455141	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455142	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455143	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455145	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455152	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455154	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455155	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455157	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
6	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
4	chr6:71158400-71213600	Weak transcription	NHEK	skin
5	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
6	chr6:71180400-71212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:71181600-71213600	Weak transcription	HMEC	breast
8	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
10	chr6:71184000-71212800	Weak transcription	A549	lung
11	chr6:71184600-71213400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:71185200-71213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:71185800-71212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:71185800-71212800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:71187200-71212400	Weak transcription	Fetal Kidney	kidney
16	chr6:71187200-71212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:71187400-71212400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:71187400-71212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:71187400-71212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:71187400-71212800	Weak transcription	Right Ventricle	heart
21	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
22	chr6:71187800-71212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:71188200-71212800	Weak transcription	HepG2	liver
24	chr6:71188400-71212200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:71189200-71212600	Weak transcription	Fetal Heart	heart
26	chr6:71190000-71213400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:71191200-71216000	Weak transcription	Gastric	stomach
28	chr6:71192000-71212400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:71192000-71212600	Weak transcription	Brain Angular Gyrus	brain
30	chr6:71194000-71212400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:71194000-71213600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:71194600-71213200	Weak transcription	Primary T cells from cord blood	blood
33	chr6:71194600-71213600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:71195800-71212400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:71196000-71212200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:71196000-71212400	Weak transcription	Primary B cells from cord blood	blood
37	chr6:71196200-71212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:71196400-71212400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:71199600-71212400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:71199600-71212600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:71199800-71213600	Weak transcription	Left Ventricle	heart
42	chr6:71202200-71212400	Weak transcription	NHDF-Ad	bronchial
43	chr6:71206400-71212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:71206600-71212600	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:71207400-71213200	Weak transcription	HSMM	muscle
46	chr6:71207600-71215200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:71207800-71213200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:71208800-71215600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:71209000-71213600	Weak transcription	HUVEC	blood vessel
50	chr6:71209400-71214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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