Variant report

Variant	rs212426
Chromosome Location	chr7:105515090-105515091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:105515087-105515375	HepG2	liver:	n/a	n/a
2	E2F4	chr7:105515084-105515155	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr7:105514943-105515146	HepG2	liver:	n/a	chr7:105515124-105515139 chr7:105515039-105515055 chr7:105515037-105515057
4	MAFK	chr7:105514946-105515146	HepG2	liver:	n/a	chr7:105515124-105515139 chr7:105515039-105515055 chr7:105515037-105515057

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	chr7:105513448..105515426-chr7:105522353..105525334,2	MCF-7	breast:
4	chr7:105501942..105503890-chr7:105514726..105516451,2	MCF-7	breast:
5	chr7:105417593..105419833-chr7:105514684..105516854,2	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs212412	0.86[ASN][1000 genomes]
rs212413	0.86[ASN][1000 genomes]
rs212415	0.86[ASN][1000 genomes]
rs212423	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212424	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212435	0.87[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105480000-105515600	Weak transcription	Ovary	ovary
2	chr7:105488000-105515600	Weak transcription	Aorta	Aorta
3	chr7:105490200-105515600	Weak transcription	Gastric	stomach
4	chr7:105490200-105516200	Weak transcription	Thymus	Thymus
5	chr7:105491600-105515200	Weak transcription	Spleen	Spleen
6	chr7:105491800-105515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:105492800-105515800	Weak transcription	A549	lung
8	chr7:105493200-105516400	Weak transcription	Lung	lung
9	chr7:105494800-105515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:105495000-105515200	Weak transcription	Right Atrium	heart
11	chr7:105495000-105515600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:105495200-105515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:105495200-105515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:105495200-105515400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:105495200-105515400	Weak transcription	Brain Anterior Caudate	brain
16	chr7:105495200-105515400	Weak transcription	Fetal Kidney	kidney
17	chr7:105495200-105515400	Weak transcription	Fetal Lung	lung
18	chr7:105495200-105515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:105495200-105515600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:105495400-105515200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:105498000-105515600	Weak transcription	Colonic Mucosa	Colon
22	chr7:105499000-105515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:105499200-105515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:105502600-105515600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:105503400-105515600	Weak transcription	Left Ventricle	heart
26	chr7:105504000-105516000	Weak transcription	HSMMtube	muscle
27	chr7:105504200-105515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:105504200-105515600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:105504400-105515200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:105504400-105515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:105504800-105515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:105505000-105515400	Weak transcription	NH-A	brain
33	chr7:105505000-105515600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:105505200-105516200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:105505600-105515200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:105507000-105515600	Weak transcription	NHEK	skin
37	chr7:105507200-105515200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:105507200-105515600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:105507200-105515800	Weak transcription	Liver	Liver
40	chr7:105507200-105516000	Weak transcription	Psoas Muscle	Psoas
41	chr7:105507400-105515400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:105507600-105515200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:105508000-105515200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:105508000-105515400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:105508400-105515600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:105508400-105515800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:105508800-105515400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:105508800-105516000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:105509000-105515200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:105509000-105515400	Weak transcription	Fetal Intestine Large	intestine

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