Variant report

Variant	rs12110403
Chromosome Location	chr6:142697372-142697373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142696462..142698436-chr6:142698561..142701397,2	MCF-7	breast:
2	chr6:142693095..142695655-chr6:142695797..142698299,2	MCF-7	breast:
3	chr6:142644270..142645921-chr6:142696254..142697871,2	MCF-7	breast:
4	chr6:142623095..142627464-chr6:142695015..142699315,6	MCF-7	breast:
5	chr6:142621770..142624085-chr6:142694807..142697859,4	MCF-7	breast:
6	chr6:142683303..142685618-chr6:142695779..142698326,2	MCF-7	breast:
7	chr6:142695789..142698729-chr6:142704783..142708780,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

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

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

rs_ID	r²[population]
rs12111442	1.00[EUR][1000 genomes]
rs58618846	1.00[EUR][1000 genomes]
rs723990	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580445	1.00[EUR][1000 genomes]
rs73580447	1.00[EUR][1000 genomes]
rs9942441	1.00[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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142693200-142700000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:142693200-142700200	Enhancers	HMEC	breast
3	chr6:142693200-142700600	Enhancers	Hela-S3	cervix
4	chr6:142694000-142698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:142694000-142699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:142694800-142699200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:142695000-142698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:142695400-142697400	Flanking Active TSS	HepG2	liver
9	chr6:142695400-142698000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:142695400-142698200	Weak transcription	Small Intestine	intestine
11	chr6:142695400-142699800	Enhancers	HSMM	muscle
12	chr6:142695600-142697600	Enhancers	Fetal Kidney	kidney
13	chr6:142695600-142700400	Enhancers	Fetal Lung	lung
14	chr6:142695800-142699600	Weak transcription	Fetal Stomach	stomach
15	chr6:142696000-142699200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:142696000-142700200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:142696000-142700200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:142696200-142697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:142696200-142697600	Flanking Active TSS	HUVEC	blood vessel
20	chr6:142696200-142698000	Active TSS	A549	lung
21	chr6:142696200-142698200	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:142696200-142698600	Enhancers	NHLF	lung
23	chr6:142696200-142698800	Enhancers	Stomach Mucosa	stomach
24	chr6:142696400-142698200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:142696400-142698200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:142696400-142698200	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:142696400-142698200	Weak transcription	Placenta	Placenta
28	chr6:142696600-142697400	Weak transcription	Fetal Intestine Small	intestine
29	chr6:142696600-142697600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:142696600-142698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:142696600-142698000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:142696600-142698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:142696600-142698000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:142696600-142698200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:142696600-142698400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:142696600-142699600	Enhancers	Fetal Intestine Large	intestine
37	chr6:142696600-142700000	Enhancers	Osteobl	bone
38	chr6:142696800-142697600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:142696800-142698000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:142696800-142698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:142696800-142698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:142696800-142698000	Weak transcription	HSMMtube	muscle
43	chr6:142696800-142698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:142696800-142698200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:142696800-142698200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:142696800-142698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:142696800-142699000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:142696800-142699000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:142696800-142699200	Weak transcription	Fetal Heart	heart
50	chr6:142696800-142699400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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