Variant report

Variant	rs73951131
Chromosome Location	chr2:74279552-74279553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74275740..74280453-chr2:74282056..74286021,5	K562	blood:
2	chr2:74276972..74279713-chr2:74280390..74282044,2	MCF-7	breast:
3	chr2:74210992..74214307-chr2:74278906..74282419,5	MCF-7	breast:
4	chr2:74278465..74281592-chr2:74292144..74295348,3	K562	blood:
5	chr2:74276566..74278886-chr2:74279074..74282832,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
rs56220427	1.00[AFR][1000 genomes]
rs57078518	1.00[AFR][1000 genomes]
rs60232103	1.00[AFR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951134	1.00[AFR][1000 genomes]
rs73951135	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[AFR][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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
3	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
4	chr2:74266400-74287200	Weak transcription	HSMM	muscle
5	chr2:74269000-74280200	Weak transcription	HSMMtube	muscle
6	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
7	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
8	chr2:74270600-74280800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:74270600-74281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:74270800-74280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:74271000-74280200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:74271600-74287600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:74272800-74285600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:74273000-74282600	Weak transcription	Right Atrium	heart
15	chr2:74273000-74285000	Weak transcription	HMEC	breast
16	chr2:74273200-74293800	Weak transcription	Fetal Lung	lung
17	chr2:74274200-74280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:74274400-74286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:74274800-74281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
21	chr2:74275600-74280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:74275600-74285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:74275800-74281000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:74275800-74301400	Weak transcription	A549	lung
26	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:74276000-74280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:74276000-74280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:74276000-74285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:74276000-74294800	Weak transcription	Right Ventricle	heart
33	chr2:74276200-74279800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:74276200-74279800	Enhancers	Brain Substantia Nigra	brain
35	chr2:74276200-74280400	Weak transcription	Placenta	Placenta
36	chr2:74276200-74280800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:74276400-74279800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:74276600-74280400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:74276600-74281600	Enhancers	Brain Hippocampus Middle	brain
41	chr2:74276600-74284000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:74276600-74286000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:74276600-74293600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:74276600-74293800	Weak transcription	Fetal Brain Female	brain
45	chr2:74276600-74294800	Weak transcription	Lung	lung
46	chr2:74276800-74279800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:74276800-74279800	Weak transcription	Fetal Thymus	thymus
48	chr2:74276800-74280400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:74276800-74280400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:74276800-74281000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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