Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:190305843..190308826-chr2:190401066..190402743,2	K562	blood:
2	chr2:190351391..190354367-chr2:190399955..190402907,2	MCF-7	breast:
3	chr2:190394029..190395946-chr2:190399770..190401862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233996	Chromatin interaction
ENSG00000115368	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190392400-190406400	Weak transcription	Small Intestine	intestine
2	chr2:190398400-190405000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:190398400-190405800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:190399400-190410200	Weak transcription	Aorta	Aorta
5	chr2:190399800-190405600	Weak transcription	HMEC	breast
6	chr2:190400200-190402800	Weak transcription	HepG2	liver
7	chr2:190400200-190406000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:190400400-190401400	Enhancers	K562	blood
9	chr2:190400400-190402600	Weak transcription	Fetal Intestine Large	intestine
10	chr2:190400400-190406000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:190400400-190407200	Weak transcription	A549	lung
12	chr2:190400400-190410000	Weak transcription	Fetal Lung	lung
13	chr2:190400600-190401600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:190400600-190406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:190400800-190404800	Weak transcription	Stomach Mucosa	stomach
16	chr2:190400800-190405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:190400800-190406000	Weak transcription	Psoas Muscle	Psoas
18	chr2:190400800-190408400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:190401000-190406200	Weak transcription	Gastric	stomach
20	chr2:190401000-190406400	Weak transcription	Pancreas	Pancrea
21	chr2:190401000-190409400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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