Variant report

Variant	rs7314412
Chromosome Location	chr12:44774645-44774646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44773541..44775269-chr12:44780927..44783854,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10785500	1.00[CHB][hapmap]
rs1452263	1.00[CHB][hapmap]
rs1527315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1622682	1.00[CHB][hapmap]
rs1625442	1.00[CHB][hapmap]
rs1643432	1.00[CHB][hapmap]
rs1644007	1.00[CHB][hapmap]
rs1644014	1.00[CHB][hapmap]
rs1716605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1716609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1726874	1.00[CHB][hapmap]
rs1726884	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726887	1.00[CHB][hapmap]
rs1726889	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726890	1.00[CHB][hapmap]
rs1798020	1.00[CHB][hapmap]
rs1798023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1798027	1.00[CHB][hapmap]
rs1798032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4639992	1.00[JPT][hapmap]
rs4768559	1.00[JPT][hapmap]
rs7969466	1.00[JPT][hapmap]
rs840773	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs840774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs859016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863482	1.00[CHB][hapmap];1.00[JPT][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44754000-44775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44762000-44777400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
6	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:44770800-44775400	Enhancers	Fetal Brain Female	brain
8	chr12:44771200-44775800	Weak transcription	Left Ventricle	heart
9	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:44772000-44775000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:44772000-44775000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:44772000-44782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:44772400-44777200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:44772600-44775800	Enhancers	Fetal Brain Male	brain
16	chr12:44773400-44774800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:44773400-44775600	Enhancers	Fetal Heart	heart
18	chr12:44773600-44775400	Enhancers	Fetal Stomach	stomach
19	chr12:44773800-44775800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:44773800-44779800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:44774200-44775200	Weak transcription	Psoas Muscle	Psoas
22	chr12:44774200-44777800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:44774200-44778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:44774400-44777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:44774400-44777400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:44774400-44778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:44774400-44778400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:44774600-44775000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:44774600-44775000	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:44774600-44777800	Weak transcription	H9 Cell Line	embryonic stem cell

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