Variant report

Variant	rs539856111
Chromosome Location	chr2:173302587-173302588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3458704	chr2:173302313-173304582	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3458702	chr2:173302340-173304579	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3458703	chr2:173302380-173304529	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv3458705	chr2:173302491-173304471	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:173294600-173302600	Weak transcription	NH-A	brain
4	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:173294600-173303400	Weak transcription	NHLF	lung
6	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
8	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:173295200-173302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
13	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
14	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:173296200-173303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
18	chr2:173296400-173303400	Weak transcription	Liver	Liver
19	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
21	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea
22	chr2:173297200-173303400	Enhancers	Thymus	Thymus
23	chr2:173297200-173304800	Weak transcription	Fetal Kidney	kidney
24	chr2:173297400-173303600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:173297400-173304000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:173297600-173307400	Enhancers	Spleen	Spleen
27	chr2:173298400-173302800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:173298600-173304000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:173299200-173304000	Enhancers	Right Atrium	heart
30	chr2:173299200-173305000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr2:173299400-173302600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:173299400-173303600	Enhancers	HUVEC	blood vessel
33	chr2:173299600-173302600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:173299800-173302600	Enhancers	HSMMtube	muscle
35	chr2:173299800-173304200	Enhancers	Psoas Muscle	Psoas
36	chr2:173300000-173302600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:173300000-173302600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:173300000-173303400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:173300000-173303600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:173300000-173303800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:173300200-173302600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:173300200-173302600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:173300200-173302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:173300200-173304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:173300200-173307600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:173300400-173302600	Enhancers	Hela-S3	cervix
47	chr2:173300400-173305000	Enhancers	Lung	lung
48	chr2:173300400-173308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:173300600-173303000	Weak transcription	Colonic Mucosa	Colon
50	chr2:173300600-173303600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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