Variant report

Variant	rs546912302
Chromosome Location	chr2:172723822-172723823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172722204..172724793-chr2:172734963..172736476,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv3378815	chr2:172720906-172725204	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3384331	chr2:172721856-172725054	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
3	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
5	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:172693600-172734600	Weak transcription	HSMM	muscle
9	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
11	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
13	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:172698600-172724200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:172700200-172724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:172700200-172724400	Weak transcription	Fetal Stomach	stomach
24	chr2:172700400-172724200	Weak transcription	Fetal Brain Female	brain
25	chr2:172704200-172724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:172710000-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:172710600-172724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:172711200-172724200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:172711400-172724200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:172711400-172731000	Weak transcription	GM12878-XiMat	blood
39	chr2:172711600-172724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:172712000-172727400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:172712000-172731200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:172712200-172731000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
45	chr2:172712400-172724200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:172712400-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:172712400-172731400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:172712400-172738200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:172712600-172724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:172712600-172725000	Weak transcription	Monocytes-CD14+_RO01746	blood

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