Variant report

Variant	rs534221508
Chromosome Location	chr2:100898952-100898953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100896929..100899724-chr2:100932462..100934829,2	K562	blood:
2	chr2:100895235..100899399-chr2:100936905..100939740,4	K562	blood:
3	chr2:100898902..100903882-chr2:100937164..100940384,5	K562	blood:
4	chr2:100898914..100902025-chr2:100905240..100908498,4	K562	blood:
5	chr2:100889062..100891590-chr2:100897869..100900179,3	MCF-7	breast:
6	chr2:100889953..100892451-chr2:100898543..100901501,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1803417	chr2:100898843-100901948	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
5	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:100889400-100900200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:100890600-100900200	Weak transcription	Right Ventricle	heart
8	chr2:100891400-100900000	Weak transcription	Aorta	Aorta
9	chr2:100891800-100900200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:100892000-100902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:100892000-100904000	Weak transcription	Gastric	stomach
13	chr2:100892200-100900200	Weak transcription	Pancreas	Pancrea
14	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:100892400-100900600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:100894400-100900400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:100895600-100900200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:100896600-100899000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:100896600-100900000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
21	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:100897400-100899000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:100897400-100899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:100897600-100899000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:100897600-100899000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:100897600-100903600	Enhancers	Dnd41	blood
27	chr2:100898000-100899000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:100898200-100899000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:100898400-100899000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:100898400-100899000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:100898400-100899000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:100898400-100899000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:100898400-100899400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100898400-100900000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:100898400-100900400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:100898400-100902000	Weak transcription	Fetal Stomach	stomach
37	chr2:100898400-100906800	Weak transcription	Placenta	Placenta
38	chr2:100898400-100908200	Weak transcription	Fetal Lung	lung
39	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
40	chr2:100898600-100899000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:100898600-100899000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:100898600-100900000	Weak transcription	Fetal Brain Male	brain
43	chr2:100898600-100900200	Weak transcription	Brain Germinal Matrix	brain
44	chr2:100898600-100900200	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:100898600-100900200	Weak transcription	Fetal Brain Female	brain
46	chr2:100898600-100900200	Weak transcription	Ovary	ovary
47	chr2:100898600-100901000	Genic enhancers	K562	blood
48	chr2:100898600-100901600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:100898600-100902200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:100898600-100902600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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