Variant report

Variant	rs72835446
Chromosome Location	chr2:114634712-114634713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114595700..114597875-chr2:114633557..114635460,2	MCF-7	breast:
2	chr2:114599733..114601786-chr2:114631688..114635727,3	MCF-7	breast:
3	chr2:114634689..114637227-chr2:114637787..114640303,2	K562	blood:
4	chr2:114634584..114637421-chr2:118770170..118773042,2	MCF-7	breast:
5	chr2:114512137..114514809-chr2:114634552..114636570,3	MCF-7	breast:
6	chr2:114633812..114636075-chr2:114642561..114644204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125633	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000228857	Chromatin interaction

rs_ID	r²[population]
rs12998926	1.00[ASN][1000 genomes]
rs34004564	1.00[ASN][1000 genomes]
rs34222823	1.00[ASN][1000 genomes]
rs35192494	1.00[ASN][1000 genomes]
rs55878739	1.00[ASN][1000 genomes]
rs72833627	1.00[AFR][1000 genomes]
rs72833658	1.00[AFR][1000 genomes]
rs72833664	1.00[AFR][1000 genomes]
rs72833665	1.00[ASN][1000 genomes]
rs72835471	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835497	1.00[ASN][1000 genomes]
rs72835498	1.00[ASN][1000 genomes]

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114621200-114639600	Weak transcription	GM12878-XiMat	blood
2	chr2:114621400-114638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:114626400-114635000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:114626800-114635000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:114630200-114635000	Weak transcription	HSMM	muscle
6	chr2:114630200-114635200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:114630400-114635000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:114630400-114635000	Weak transcription	HSMMtube	muscle
9	chr2:114630400-114635000	Weak transcription	NHDF-Ad	bronchial
10	chr2:114630400-114635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114630400-114635200	Weak transcription	Osteobl	bone
12	chr2:114630400-114635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114631400-114635200	Weak transcription	Small Intestine	intestine
14	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
15	chr2:114631600-114636400	Weak transcription	Left Ventricle	heart
16	chr2:114631800-114635400	Weak transcription	Adipose Nuclei	Adipose
17	chr2:114631800-114639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:114632000-114635200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:114632000-114635600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:114632400-114635400	Weak transcription	HUVEC	blood vessel
21	chr2:114632600-114636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114633400-114634800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:114633400-114636000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:114633400-114636400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:114633600-114636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:114633800-114635000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:114633800-114635600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:114633800-114636000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:114633800-114636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:114633800-114636200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:114633800-114636800	Enhancers	Fetal Intestine Large	intestine
32	chr2:114633800-114636800	Enhancers	HMEC	breast
33	chr2:114633800-114637200	Enhancers	Stomach Mucosa	stomach
34	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
35	chr2:114634000-114634800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:114634000-114634800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:114634000-114634800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:114634000-114634800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:114634000-114635000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:114634000-114635000	Enhancers	Esophagus	oesophagus
41	chr2:114634000-114635600	Enhancers	Placenta	Placenta
42	chr2:114634000-114635600	Flanking Active TSS	HepG2	liver
43	chr2:114634200-114634800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:114634200-114634800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:114634200-114634800	Flanking Active TSS	Thymus	Thymus
46	chr2:114634200-114635200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:114634200-114636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:114634200-114636000	Enhancers	K562	blood
49	chr2:114634200-114636800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:114634200-114636800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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