Variant report

Variant	rs28360477
Chromosome Location	chr12:121712301-121712302
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	HMGN3	chr12:121712218-121712410	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121710529..121712410-chr12:121734023..121735954,2	MCF-7	breast:

Variant related genes	Relation type
CAMKK2	TF binding region
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11065570	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11065581	1.00[CHD][hapmap]
rs12810635	1.00[CHD][hapmap]
rs2288693	1.00[YRI][hapmap]
rs4545636	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
4	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
5	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:121679600-121713000	Strong transcription	Liver	Liver
7	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
8	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:121685200-121712400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:121689000-121713000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:121690800-121714200	Strong transcription	Fetal Stomach	stomach
19	chr12:121691200-121716400	Weak transcription	Psoas Muscle	Psoas
20	chr12:121695400-121712600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:121696000-121712600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121696400-121714600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:121696600-121712600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:121697000-121713000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:121699800-121716600	Weak transcription	Stomach Mucosa	stomach
26	chr12:121699800-121717200	Weak transcription	Fetal Heart	heart
27	chr12:121701000-121713000	Strong transcription	Fetal Brain Female	brain
28	chr12:121705600-121713800	Strong transcription	Brain Germinal Matrix	brain
29	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:121707400-121713200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:121707400-121714200	Weak transcription	NHEK	skin
33	chr12:121707400-121714600	Weak transcription	NH-A	brain
34	chr12:121707400-121715000	Weak transcription	NHDF-Ad	bronchial
35	chr12:121707400-121715200	Weak transcription	Fetal Kidney	kidney
36	chr12:121707400-121716600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:121707400-121720200	Weak transcription	K562	blood
38	chr12:121707400-121733200	Weak transcription	HSMM	muscle
39	chr12:121707600-121714200	Weak transcription	HUVEC	blood vessel
40	chr12:121707600-121719200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
42	chr12:121707800-121714400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:121707800-121714400	Weak transcription	HMEC	breast
44	chr12:121708200-121712800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:121708600-121714800	Weak transcription	Primary B cells from cord blood	blood
46	chr12:121708800-121714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:121708800-121715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:121708800-121730200	Weak transcription	HepG2	liver
49	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
50	chr12:121709200-121715200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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