Variant report

Variant	rs212427
Chromosome Location	chr7:105515955-105515956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:105515339-105518134	IMR90	lung:	n/a	n/a
2	POLR2A	chr7:105515589-105516113	K562	blood:	n/a	n/a
3	ZMIZ1	chr7:105515861-105516041	K562	blood:	n/a	n/a
4	RCOR1	chr7:105515945-105516122	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105513806..105516596-chr7:105523378..105525448,2	K562	blood:
2	chr7:105514782..105516451-chr7:105517322..105519469,2	MCF-7	breast:
3	chr7:105501942..105503890-chr7:105514726..105516451,2	MCF-7	breast:
4	chr7:105417593..105419833-chr7:105514684..105516854,2	MCF-7	breast:
5	chr7:105504589..105506448-chr7:105515307..105516867,2	MCF-7	breast:
6	chr7:102715242..102717974-chr7:105515259..105517980,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDHR3	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000128536	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10229490	0.90[AFR][1000 genomes]
rs142752	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212429	1.00[CEU][hapmap];1.00[MEX][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212430	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212434	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212440	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212441	1.00[CEU][hapmap]
rs212442	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212443	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212444	1.00[CEU][hapmap]
rs575979	1.00[ASN][1000 genomes]
rs57826286	0.88[AFR][1000 genomes]
rs594181	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105490200-105516200	Weak transcription	Thymus	Thymus
2	chr7:105493200-105516400	Weak transcription	Lung	lung
3	chr7:105504000-105516000	Weak transcription	HSMMtube	muscle
4	chr7:105505200-105516200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:105507200-105516000	Weak transcription	Psoas Muscle	Psoas
6	chr7:105508800-105516000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:105513000-105516000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:105513000-105516000	Weak transcription	HSMM	muscle
9	chr7:105513600-105516200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:105514200-105516000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:105514600-105516400	Enhancers	Fetal Heart	heart
12	chr7:105514800-105516000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:105514800-105516200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:105514800-105516200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:105515000-105516000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:105515000-105516400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:105515200-105516000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:105515200-105516000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:105515200-105516000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:105515200-105516000	Flanking Active TSS	Fetal Brain Female	brain
21	chr7:105515200-105516000	Enhancers	Right Atrium	heart
22	chr7:105515200-105516000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:105515200-105516000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr7:105515200-105516200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:105515200-105516200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:105515200-105516400	Enhancers	Spleen	Spleen
27	chr7:105515400-105516000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:105515400-105516000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:105515400-105516000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr7:105515400-105516000	Enhancers	Fetal Intestine Large	intestine
31	chr7:105515400-105516000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr7:105515400-105516000	Genic enhancers	K562	blood
33	chr7:105515400-105516000	Enhancers	NH-A	brain
34	chr7:105515400-105516000	Transcr. at gene 5' and 3'	NHLF	lung
35	chr7:105515400-105516200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:105515400-105516200	Enhancers	Pancreas	Pancrea
37	chr7:105515400-105516600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr7:105515600-105516000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:105515600-105516000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:105515600-105516000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:105515600-105516000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:105515600-105516000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:105515600-105516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:105515600-105516000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:105515600-105516000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr7:105515600-105516000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:105515600-105516000	Flanking Active TSS	Fetal Kidney	kidney
48	chr7:105515600-105516000	Flanking Active TSS	Fetal Lung	lung
49	chr7:105515600-105516000	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:105515600-105516000	Enhancers	Sigmoid Colon	Sigmoid Colon

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