Variant report

Variant	rs12049183
Chromosome Location	chr1:94479468-94479469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94474811..94477803-chr1:94479025..94480714,3	K562	blood:
2	chr1:94478608..94480498-chr1:94484594..94486437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

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

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

rs_ID	r²[population]
rs10874829	0.87[EUR][1000 genomes]
rs3789391	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4147859	0.87[EUR][1000 genomes]
rs4147861	0.87[EUR][1000 genomes]
rs55694362	0.80[EUR][1000 genomes]
rs56166161	0.80[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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546850	chr1:94479468-94485277	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94475400-94485600	Weak transcription	NH-A	brain
3	chr1:94476400-94480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:94476600-94479600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:94476800-94480400	Enhancers	Fetal Intestine Large	intestine
6	chr1:94477000-94479800	Enhancers	Fetal Intestine Small	intestine
7	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:94477200-94480400	Weak transcription	HMEC	breast
9	chr1:94477400-94479800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr1:94477400-94480000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:94477400-94480200	Enhancers	Brain Germinal Matrix	brain
12	chr1:94477800-94479800	Weak transcription	Spleen	Spleen
13	chr1:94478000-94479600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr1:94478000-94479800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr1:94478400-94479600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:94478400-94480000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr1:94478400-94480400	Weak transcription	Osteobl	bone
18	chr1:94478600-94480000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:94478800-94479600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr1:94479000-94479600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr1:94479000-94479600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:94479000-94480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:94479000-94481600	Enhancers	K562	blood
24	chr1:94479200-94480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:94479200-94484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:94479400-94479600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:94479400-94484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:94479400-94484800	Weak transcription	Placenta	Placenta
29	chr1:94479400-94486000	Weak transcription	HSMM	muscle

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