Variant report

Variant	rs17713212
Chromosome Location	chr6:71198832-71198833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71122464..71124155-chr6:71195553..71199266,3	K562	blood:
2	chr6:71195034..71197848-chr6:71198346..71201076,2	K562	blood:

Variant related genes	Relation type
ENSG00000224349	Chromatin interaction
ENSG00000082269	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10214805	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10455706	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs1048886	0.93[CEU][hapmap]
rs1075263	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs10945230	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10945231	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10945235	0.81[EUR][1000 genomes]
rs11965656	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs1208480	0.86[EUR][1000 genomes]
rs12180997	0.80[EUR][1000 genomes]
rs12191321	0.85[EUR][1000 genomes]
rs12197942	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12197963	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12200777	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12201029	0.86[EUR][1000 genomes]
rs12203089	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203298	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12209965	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12216376	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12524814	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12525538	0.87[EUR][1000 genomes]
rs12525777	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526164	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12526787	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526827	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs12526961	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527634	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs12528385	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528391	0.85[EUR][1000 genomes]
rs12528866	0.96[EUR][1000 genomes]
rs12529284	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12529309	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12529984	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs12530057	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12530358	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869156	0.81[CEU][hapmap]
rs16869158	0.81[CEU][hapmap]
rs16869170	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs16869267	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs16869340	0.84[EUR][1000 genomes]
rs16869353	0.92[EUR][1000 genomes]
rs16869370	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs16869371	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16869373	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1739338	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs17634272	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17634491	0.86[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17635446	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17635510	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17706748	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17706833	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17713105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713547	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2207423	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2207425	1.00[CEU][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2273210	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs2293297	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2295200	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs2346889	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2346890	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs2639291	0.88[EUR][1000 genomes]
rs2639297	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2691486	0.92[CEU][hapmap]
rs2691496	0.93[CEU][hapmap]
rs2747702	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs2842063	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs3193656	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs34246525	0.87[EUR][1000 genomes]
rs35159719	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3846746	0.87[CEU][hapmap]
rs3846748	0.93[CEU][hapmap]
rs3846750	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs3889007	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs41265349	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4283855	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs4496758	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs45460797	0.86[EUR][1000 genomes]
rs55639214	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55761717	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968813	0.94[EUR][1000 genomes]
rs55990553	0.91[EUR][1000 genomes]
rs55990831	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074506	0.92[EUR][1000 genomes]
rs56114703	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56143128	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56179165	0.92[EUR][1000 genomes]
rs56322111	0.92[EUR][1000 genomes]
rs56397968	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58144467	0.84[EUR][1000 genomes]
rs58370765	0.83[EUR][1000 genomes]
rs58637377	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59275635	0.95[EUR][1000 genomes]
rs59698166	0.93[EUR][1000 genomes]
rs61223738	0.85[EUR][1000 genomes]
rs6455367	0.86[CEU][hapmap]
rs6455370	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6900840	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs6901904	0.96[EUR][1000 genomes]
rs6906592	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs6911812	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs6911983	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6913548	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs6915405	0.83[CEU][hapmap]
rs6916974	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6918393	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs6919794	0.86[EUR][1000 genomes]
rs6932470	0.85[EUR][1000 genomes]
rs6933150	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs6933337	0.85[EUR][1000 genomes]
rs6940416	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6941595	0.92[EUR][1000 genomes]
rs6942012	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs73474927	0.85[EUR][1000 genomes]
rs73474934	0.85[EUR][1000 genomes]
rs73474937	0.84[EUR][1000 genomes]
rs73474966	0.85[EUR][1000 genomes]
rs73474998	0.96[EUR][1000 genomes]
rs73478819	0.96[EUR][1000 genomes]
rs73480275	0.91[EUR][1000 genomes]
rs73480280	0.91[EUR][1000 genomes]
rs73482554	0.96[EUR][1000 genomes]
rs73482557	0.96[EUR][1000 genomes]
rs73482585	0.96[EUR][1000 genomes]
rs73489091	0.81[EUR][1000 genomes]
rs7450771	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7739517	0.84[EUR][1000 genomes]
rs7740873	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7741265	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7742044	0.81[EUR][1000 genomes]
rs7743819	0.93[CEU][hapmap]
rs7752409	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs7753355	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7756774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7757026	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7759464	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs7766075	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs7769582	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs7773794	0.84[EUR][1000 genomes]
rs7775962	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs9283835	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9294868	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs9294871	0.92[EUR][1000 genomes]
rs9294872	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9294874	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs9294876	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9446245	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs9446246	0.81[EUR][1000 genomes]
rs9446248	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9446252	0.86[EUR][1000 genomes]
rs9446258	0.85[EUR][1000 genomes]
rs9446267	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9455092	0.94[CEU][hapmap]
rs9455093	0.82[EUR][1000 genomes]
rs9455094	0.89[EUR][1000 genomes]
rs9455097	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9455101	0.89[EUR][1000 genomes]
rs9455104	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs9455105	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs9455113	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9455114	0.94[EUR][1000 genomes]
rs9455121	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9455130	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs9455132	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs9455139	0.92[EUR][1000 genomes]
rs9455140	0.92[EUR][1000 genomes]
rs9455144	0.85[EUR][1000 genomes]
rs9455150	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455151	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9455158	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9455160	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9455161	0.92[EUR][1000 genomes]
rs9455162	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9455163	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9455181	0.81[EUR][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:88 , 50 per page) page: 1 2

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	chr6:71178000-71210400	Weak transcription	Lung	lung
7	chr6:71180400-71212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:71180800-71200000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:71181600-71213600	Weak transcription	HMEC	breast
10	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
12	chr6:71184000-71212800	Weak transcription	A549	lung
13	chr6:71184200-71199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:71184400-71199800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:71184400-71210400	Weak transcription	Fetal Stomach	stomach
16	chr6:71184600-71199400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:71184600-71209600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:71184600-71210600	Weak transcription	Esophagus	oesophagus
19	chr6:71184600-71213400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:71185200-71213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:71185800-71212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:71185800-71212800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:71186000-71210400	Weak transcription	Aorta	Aorta
24	chr6:71187200-71212400	Weak transcription	Fetal Kidney	kidney
25	chr6:71187200-71212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:71187400-71199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:71187400-71202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:71187400-71210800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:71187400-71211200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:71187400-71212400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:71187400-71212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:71187400-71212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:71187400-71212800	Weak transcription	Right Ventricle	heart
34	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
35	chr6:71187800-71211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:71187800-71212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:71188200-71212800	Weak transcription	HepG2	liver
38	chr6:71188400-71212200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:71189200-71212600	Weak transcription	Fetal Heart	heart
40	chr6:71189400-71200800	Weak transcription	HSMM	muscle
41	chr6:71189400-71210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:71189800-71209400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:71190000-71213400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:71190400-71204800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:71191200-71216000	Weak transcription	Gastric	stomach
46	chr6:71192000-71206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:71192000-71210800	Weak transcription	Adipose Nuclei	Adipose
48	chr6:71192000-71212400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:71192000-71212600	Weak transcription	Brain Angular Gyrus	brain
50	chr6:71192200-71208600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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