Variant report

Variant	rs784081
Chromosome Location	chr12:104349986-104349987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
2	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
4	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
5	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
6	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
7	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1177458	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172814	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254063	0.82[EUR][1000 genomes]
rs2254064	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2576973	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583227	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583251	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583260	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583261	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2583263	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583277	0.83[EUR][1000 genomes]
rs2629768	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629770	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2629771	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629779	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700510	0.91[AFR][1000 genomes]
rs2722200	0.91[AFR][1000 genomes]
rs2723846	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723847	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723876	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322102	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322105	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322106	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322107	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322108	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322110	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs796736	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs784081	KRTHB5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104337000-104350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104347600-104350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:104348400-104350000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:104348400-104350000	Weak transcription	Aorta	Aorta
5	chr12:104348400-104350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:104349000-104350000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:104349000-104350000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:104349000-104350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:104349000-104350000	Enhancers	Small Intestine	intestine
10	chr12:104349200-104350000	Enhancers	Gastric	stomach
11	chr12:104349200-104350400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:104349200-104350400	Flanking Active TSS	Dnd41	blood
13	chr12:104349200-104351200	Active TSS	NHLF	lung
14	chr12:104349200-104351600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:104349200-104351600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:104349200-104351600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:104349200-104351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104349400-104350000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104349400-104350000	Enhancers	Primary B cells from cord blood	blood
20	chr12:104349400-104350000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:104349400-104350200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:104349400-104350200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:104349400-104350200	Flanking Active TSS	Fetal Brain Male	brain
24	chr12:104349400-104350200	Flanking Active TSS	Fetal Brain Female	brain
25	chr12:104349400-104350200	Active TSS	HepG2	liver
26	chr12:104349400-104350200	Flanking Active TSS	NH-A	brain
27	chr12:104349400-104350200	Flanking Active TSS	NHEK	skin
28	chr12:104349400-104350400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:104349400-104350400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:104349400-104350400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:104349400-104350400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:104349400-104350400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:104349400-104350400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr12:104349400-104350400	Flanking Active TSS	HMEC	breast
35	chr12:104349400-104350400	Flanking Active TSS	HUVEC	blood vessel
36	chr12:104349400-104351600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:104349400-104351600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:104349400-104351600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:104349400-104351600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr12:104349400-104351600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:104349600-104350000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:104349600-104350000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:104349600-104350000	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr12:104349600-104350000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:104349600-104350000	Enhancers	Stomach Mucosa	stomach
47	chr12:104349600-104350000	Flanking Active TSS	Hela-S3	cervix
48	chr12:104349600-104350000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:104349600-104350200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:104349600-104350200	Enhancers	Primary B cells from peripheral blood	blood

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