Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:74132299..74136854-chr2:74145203..74152405,6	K562	blood:
2	chr2:74133716..74135437-chr2:74220457..74222515,2	MCF-7	breast:
3	chr2:74133774..74136994-chr2:74138237..74139777,3	MCF-7	breast:
4	chr2:74132872..74135122-chr2:74152431..74155400,2	MCF-7	breast:
5	chr2:74133605..74137244-chr2:74210575..74213593,3	MCF-7	breast:
6	chr2:74133818..74137397-chr2:74152829..74154524,3	MCF-7	breast:
7	chr2:74133676..74135891-chr2:74180089..74182186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction
ENSG00000235499	Chromatin interaction

rSNPs within LD-proxies of this variant (count:8)

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	nsv470469	chr2:74122223-74137844	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1010401	chr2:74128361-74151102	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74122200-74143800	Weak transcription	Ovary	ovary
2	chr2:74124600-74153200	Weak transcription	Colonic Mucosa	Colon
3	chr2:74127600-74145600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:74128400-74134400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:74129400-74135800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:74129800-74135000	Weak transcription	Thymus	Thymus
7	chr2:74130000-74134400	Weak transcription	NHLF	lung
8	chr2:74130000-74135000	Weak transcription	Fetal Thymus	thymus
9	chr2:74130200-74135000	Weak transcription	K562	blood
10	chr2:74130200-74148200	Weak transcription	Fetal Intestine Large	intestine
11	chr2:74133200-74148200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:74133600-74134600	Strong transcription	Fetal Stomach	stomach
13	chr2:74133600-74135000	Genic enhancers	Stomach Smooth Muscle	stomach
14	chr2:74133600-74136800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:74134000-74134200	Genic enhancers	Colon Smooth Muscle	Colon
16	chr2:74134000-74134600	Bivalent Enhancer	HepG2	liver
17	chr2:74134000-74135400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:74134000-74135400	Genic enhancers	Rectal Smooth Muscle	rectum
19	chr2:74134000-74135400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:74134000-74136800	Strong transcription	Aorta	Aorta

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