Variant report

Variant	rs139687491
Chromosome Location	chr2:205348690-205348691
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205347876..205349851-chr2:205365321..205368563,3	K562	blood:
2	chr2:205347876..205350145-chr2:205365321..205368902,4	K562	blood:
3	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1012465	chr2:205335630-205349444	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2756958	chr2:205342727-205348724	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759110	chr2:205342727-205348724	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2760586	chr2:205343459-205348724	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv10212	chr2:205343655-205349471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459945	chr2:205343733-205349272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3459944	chr2:205343750-205349254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459946	chr2:205343750-205349254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv18468	chr2:205343819-205349083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv963955	chr2:205347924-205351240	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205338200-205350400	Weak transcription	NHLF	lung
2	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
3	chr2:205345800-205349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:205347400-205348800	Enhancers	Fetal Intestine Small	intestine
5	chr2:205348000-205348800	Enhancers	HepG2	liver
6	chr2:205348200-205348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:205348200-205349000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:205348200-205349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:205348200-205349000	Enhancers	Fetal Intestine Large	intestine
10	chr2:205348200-205349000	Enhancers	Fetal Kidney	kidney
11	chr2:205348200-205349000	Enhancers	K562	blood
12	chr2:205348400-205348800	Enhancers	Small Intestine	intestine
13	chr2:205348400-205348800	Enhancers	HSMMtube	muscle
14	chr2:205348400-205349000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:205348400-205349000	Enhancers	Liver	Liver
16	chr2:205348400-205349000	Enhancers	Esophagus	oesophagus
17	chr2:205348400-205349000	Enhancers	Pancreas	Pancrea
18	chr2:205348400-205349200	Enhancers	Gastric	stomach
19	chr2:205348400-205351800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:205348400-205352600	Enhancers	Fetal Brain Male	brain
21	chr2:205348600-205349000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:205348600-205349000	Enhancers	Fetal Lung	lung
23	chr2:205348600-205349000	Enhancers	NHEK	skin
24	chr2:205348600-205349200	Enhancers	Fetal Heart	heart

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