Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:74125925..74128450-chr2:74146748..74148354,2	K562	blood:
2	chr2:74125381..74127203-chr2:74153855..74155545,2	K562	blood:
3	chr2:74116934..74118843-chr2:74125346..74127751,2	K562	blood:
4	chr2:74123687..74127366-chr2:74128690..74131980,3	K562	blood:

Variant related genes	Relation type
ENSG00000114956	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	nsv582213	chr2:74120785-74129474	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74118600-74128400	Weak transcription	HMEC	breast
2	chr2:74120200-74127600	Active TSS	Fetal Intestine Small	intestine
3	chr2:74120200-74130200	Active TSS	Fetal Intestine Large	intestine
4	chr2:74120400-74128800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
5	chr2:74120400-74130000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
6	chr2:74122200-74143800	Weak transcription	Ovary	ovary
7	chr2:74123200-74128600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr2:74124600-74153200	Weak transcription	Colonic Mucosa	Colon
9	chr2:74124800-74127200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:74124800-74129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:74125000-74127000	Active TSS	Rectal Smooth Muscle	rectum
12	chr2:74125000-74128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:74125000-74128200	Weak transcription	Esophagus	oesophagus
14	chr2:74125000-74128600	Weak transcription	Primary T cells from cord blood	blood
15	chr2:74125200-74128600	Weak transcription	Thymus	Thymus
16	chr2:74125400-74128200	Weak transcription	Aorta	Aorta
17	chr2:74125400-74128200	Weak transcription	Fetal Thymus	thymus
18	chr2:74125800-74127000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:74126400-74129000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
20	chr2:74126800-74127400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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