Variant report

Variant	rs12216092
Chromosome Location	chr6:74314254-74314255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74312525..74315005-chr6:74316974..74319869,2	K562	blood:
3	chr6:74311981..74314645-chr6:74316596..74320386,3	MCF-7	breast:
4	chr6:74227785..74235725-chr6:74313522..74322840,21	MCF-7	breast:
5	chr6:74229410..74231742-chr6:74312645..74314509,2	MCF-7	breast:
6	chr6:74221668..74234853-chr6:74311080..74327130,62	K562	blood:
7	chr6:74313554..74316552-chr6:74335667..74338657,2	K562	blood:
8	chr6:74313794..74316156-chr6:74316863..74318391,2	MCF-7	breast:
9	chr6:74305928..74307842-chr6:74313274..74316085,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223967	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000229862	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10455281	1.00[ASN][1000 genomes]
rs10498892	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943112	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10943113	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10943117	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11964414	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12189556	0.86[ASN][1000 genomes]
rs12193002	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12195068	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12195584	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12196281	1.00[ASN][1000 genomes]
rs12197318	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12197927	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203363	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12210126	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12210394	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12210825	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12211279	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212297	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12213067	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12213868	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12214877	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13193629	1.00[ASN][1000 genomes]
rs13202151	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13203297	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13207999	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211453	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212809	1.00[ASN][1000 genomes]
rs2351118	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351119	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351120	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351121	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34342150	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34613232	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256309	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35468063	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35584640	0.92[ASN][1000 genomes]
rs35659919	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35733187	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36131846	1.00[ASN][1000 genomes]
rs3734518	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757109	1.00[ASN][1000 genomes]
rs3757111	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3799288	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4708065	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59383274	1.00[ASN][1000 genomes]
rs62438456	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62440462	1.00[ASN][1000 genomes]
rs72949387	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7744053	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv886160	chr6:74305276-74341589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
3	chr6:74290600-74338800	Weak transcription	Ovary	ovary
4	chr6:74291000-74315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:74291000-74323600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:74295200-74321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:74296000-74317200	Weak transcription	Fetal Brain Female	brain
8	chr6:74296200-74317800	Weak transcription	Colonic Mucosa	Colon
9	chr6:74296200-74317800	Weak transcription	Gastric	stomach
10	chr6:74296200-74322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:74296200-74322400	Weak transcription	Brain Germinal Matrix	brain
12	chr6:74296200-74332000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:74296400-74316000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:74296400-74316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:74296400-74318400	Weak transcription	Aorta	Aorta
16	chr6:74296400-74318400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:74296400-74325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
21	chr6:74296600-74317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:74296600-74317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:74296600-74319200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:74296600-74324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:74296600-74324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:74296600-74324400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:74296800-74316200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:74296800-74334000	Weak transcription	Fetal Lung	lung
30	chr6:74297000-74316000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:74297000-74318000	Weak transcription	HSMM	muscle
32	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
33	chr6:74297400-74318000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:74298400-74316400	Weak transcription	Dnd41	blood
35	chr6:74298400-74321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:74300800-74323600	Weak transcription	Esophagus	oesophagus
37	chr6:74303000-74318400	Weak transcription	Spleen	Spleen
38	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:74304400-74316800	Weak transcription	HepG2	liver
40	chr6:74304600-74316200	Weak transcription	NHLF	lung
41	chr6:74304600-74317800	Weak transcription	Right Ventricle	heart
42	chr6:74305000-74316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:74306400-74316000	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:74307800-74315000	Weak transcription	Brain Anterior Caudate	brain
47	chr6:74307800-74316400	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:74307800-74317800	Weak transcription	Brain Angular Gyrus	brain
49	chr6:74308000-74320200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:74308000-74320400	Weak transcription	Hela-S3	cervix

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