Variant report

Variant	rs12505992
Chromosome Location	chr4:110981940-110981941
allele	A/C
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	chr4:110981481-110982599	K562	blood:	n/a	n/a
2	FOS	chr4:110981851-110982013	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110977785..110984731-chr4:111116105..111121044,7	MCF-7	breast:

Variant related genes	Relation type
ELOVL6	TF binding region
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12498468	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17041315	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17041324	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17041330	0.87[EUR][1000 genomes]
rs17041343	0.87[CEU][hapmap]

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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv595145	chr4:110969572-110982248	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1798003	chr4:110981611-110996948	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110964800-110982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:110965000-110982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:110965200-110986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:110966800-110982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:110971800-110992800	Weak transcription	Fetal Stomach	stomach
9	chr4:110973000-110991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:110973400-110982200	Weak transcription	K562	blood
12	chr4:110973400-110992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:110974400-110990600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:110974600-110992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:110977000-110982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:110977000-110983000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:110977200-110985000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:110977200-110992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:110977200-110992600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:110979600-110982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:110979600-110982000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:110979600-110982000	Enhancers	HMEC	breast
23	chr4:110979800-110982400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:110980200-110982000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr4:110980200-110982000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:110980200-110982000	Enhancers	Small Intestine	intestine
27	chr4:110980200-110992600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:110980400-110982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:110980600-110982000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:110980600-110982000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:110980600-110982000	Enhancers	Fetal Intestine Small	intestine
33	chr4:110980600-110982000	Enhancers	HUVEC	blood vessel
34	chr4:110980600-110982200	Enhancers	Stomach Mucosa	stomach
35	chr4:110980600-110982600	Enhancers	Dnd41	blood
36	chr4:110980800-110982000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:110980800-110982000	Enhancers	Osteobl	bone
38	chr4:110980800-110982200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:110980800-110985200	Weak transcription	HepG2	liver
40	chr4:110980800-110990800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:110981000-110982000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:110981000-110982000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr4:110981000-110982000	Enhancers	NHEK	skin
44	chr4:110981000-110982200	Enhancers	Brain Cingulate Gyrus	brain
45	chr4:110981000-110983200	Enhancers	Brain Hippocampus Middle	brain
46	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:110981200-110982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:110981200-110982000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr4:110981200-110982000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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