Variant report

Variant	rs10228227
Chromosome Location	chr7:6713641-6713642
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:6712892-6716381	K562	blood:	n/a	n/a
2	ZNF274	chr7:6713303-6716360	NT2-D1	testis:	n/a	n/a
3	ZNF274	chr7:6713526-6716290	K562	blood:	n/a	n/a
4	ZNF274	chr7:6713601-6714124	GM12878	blood:	n/a	n/a
5	ZNF274	chr7:6713350-6716625	GM08714	blood:	n/a	n/a
6	ZNF274	chr7:6712223-6717827	K562	blood:	n/a	n/a
7	ZNF274	chr7:6713066-6716417	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6713296..6716134-chr7:6731301..6732830,2	MCF-7	breast:
2	chr7:6713409..6715608-chr7:6731166..6732726,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6712836-6714110	NONHSAT119055

No data

Variant related genes	Relation type
ENSG00000198580	TF binding region
ENSG00000265245	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57439768	1.00[AMR][1000 genomes]
rs73674132	1.00[AMR][1000 genomes]
rs73674135	1.00[AMR][1000 genomes]
rs73674136	1.00[AMR][1000 genomes]
rs73674137	1.00[AMR][1000 genomes]
rs73674140	1.00[AMR][1000 genomes]
rs73674142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv606006	chr7:6659509-6721661	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	esv1803673	chr7:6671496-6721661	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1834684	chr7:6671496-6721661	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6711000-6714000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr7:6711600-6716000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:6712000-6713800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:6712000-6714000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:6712000-6714200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:6712000-6715000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr7:6712000-6717800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr7:6712200-6714200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr7:6712200-6715400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:6712200-6716200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr7:6712200-6716400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:6712200-6717600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:6712200-6717800	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr7:6712200-6718000	ZNF genes & repeats	Liver	Liver
15	chr7:6712200-6739400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr7:6712400-6713800	ZNF genes & repeats	Fetal Lung	lung
17	chr7:6712400-6716200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:6712600-6713800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr7:6712600-6716000	ZNF genes & repeats	Fetal Brain Female	brain
21	chr7:6712800-6713800	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr7:6712800-6714000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:6712800-6714000	ZNF genes & repeats	Fetal Brain Male	brain
24	chr7:6712800-6714000	ZNF genes & repeats	Ovary	ovary
25	chr7:6712800-6714200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr7:6713000-6713800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr7:6713000-6714000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:6713000-6714000	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr7:6713000-6716400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr7:6713200-6713800	ZNF genes & repeats	Left Ventricle	heart
31	chr7:6713200-6714000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr7:6713200-6714000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr7:6713200-6715200	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr7:6713400-6716200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr7:6713600-6716000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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