Variant report

Variant	rs12192171
Chromosome Location	chr6:34206869-34206870
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34206853..34209166-chr6:34358536..34360960,2	MCF-7	breast:
2	chr6:26030302..26034233-chr6:34203696..34206879,3	K562	blood:
3	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
4	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
5	chr6:34205000..34207351-chr6:34521778..34524214,3	MCF-7	breast:
6	chr6:34023198..34025594-chr6:34206013..34207538,2	K562	blood:
7	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
8	chr3:53925493..53926256-chr6:34206727..34207251,2	Hela-S3	cervix:
9	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
10	chr6:34202852..34208935-chr6:34358420..34361531,11	K562	blood:
11	chr6:33755468..33757115-chr6:34205033..34207556,2	MCF-7	breast:
12	chr6:34156179..34158888-chr6:34205822..34208269,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000271231	Chromatin interaction
ENSG00000113811	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000124664	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12200221	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv823666	chr6:34201401-34207549	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv3433952	chr6:34203174-34207622	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv602865	chr6:34203406-34217181	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
15	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
16	esv3373489	chr6:34204399-34206947	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34202400-34207000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:34202400-34207400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:34202400-34207400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:34203600-34207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:34204200-34207200	Active TSS	A549	lung
6	chr6:34205200-34207000	Enhancers	Fetal Brain Male	brain
7	chr6:34205400-34207400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:34205400-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:34205600-34207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:34205600-34207000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:34205600-34207000	Flanking Active TSS	Placenta	Placenta
12	chr6:34205600-34207200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:34206000-34207000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:34206000-34207000	Flanking Active TSS	Thymus	Thymus
15	chr6:34206000-34207000	Flanking Active TSS	NHLF	lung
16	chr6:34206000-34208200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
17	chr6:34206000-34208200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
18	chr6:34206000-34208200	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr6:34206000-34208400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
20	chr6:34206000-34212000	Weak transcription	Ovary	ovary
21	chr6:34206200-34207000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:34206200-34207000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:34206200-34207000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:34206200-34207000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr6:34206200-34207000	Flanking Active TSS	Osteobl	bone
26	chr6:34206200-34207400	Flanking Active TSS	Hela-S3	cervix
27	chr6:34206200-34207800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:34206200-34207800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:34206200-34207800	Flanking Active TSS	HUVEC	blood vessel
30	chr6:34206200-34208200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
31	chr6:34206200-34208200	Transcr. at gene 5' and 3'	NHEK	skin
32	chr6:34206200-34208400	Transcr. at gene 5' and 3'	K562	blood
33	chr6:34206200-34208400	Flanking Active TSS	NH-A	brain
34	chr6:34206200-34208600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr6:34206200-34209400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
36	chr6:34206200-34212600	Weak transcription	Aorta	Aorta
37	chr6:34206400-34207000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:34206400-34207000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:34206400-34207000	Enhancers	Small Intestine	intestine
40	chr6:34206400-34207000	Flanking Active TSS	HMEC	breast
41	chr6:34206400-34207400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:34206400-34207600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
43	chr6:34206400-34208000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:34206400-34208200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
45	chr6:34206400-34208400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:34206400-34208600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
47	chr6:34206400-34208800	Weak transcription	Liver	Liver
48	chr6:34206400-34210000	Weak transcription	HSMMtube	muscle
49	chr6:34206400-34210600	Weak transcription	Right Atrium	heart
50	chr6:34206400-34211600	Weak transcription	Colon Smooth Muscle	Colon

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