Variant report

Variant	rs555171199
Chromosome Location	chr2:37143373-37143374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37135486..37138382-chr2:37141654..37143991,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv962523	chr2:37143222-37171714	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
6	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:37105000-37164600	Weak transcription	Lung	lung
10	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
12	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
13	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
14	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
15	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
19	chr2:37120000-37153800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:37120200-37149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:37120600-37168000	Weak transcription	Thymus	Thymus
22	chr2:37120800-37166400	Weak transcription	Placenta	Placenta
23	chr2:37121000-37145200	Weak transcription	Fetal Lung	lung
24	chr2:37121200-37145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:37121200-37148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:37121200-37153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:37121600-37146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:37121800-37145800	Weak transcription	A549	lung
29	chr2:37126200-37153600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:37127800-37157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:37130600-37143400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:37131600-37153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:37131800-37153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:37132000-37145800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:37132200-37153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
38	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:37137800-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:37138200-37144200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:37138400-37143600	Weak transcription	HSMMtube	muscle
42	chr2:37138400-37152000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:37138600-37160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:37139200-37143600	Strong transcription	Dnd41	blood
45	chr2:37139400-37143600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:37139400-37144600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:37139400-37148600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:37139600-37154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:37139800-37143800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:37139800-37145800	Weak transcription	Aorta	Aorta

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