Variant report

Variant	rs546163382
Chromosome Location	chr2:10001994-10001995
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	chr2:9998951..10002635-chr2:10014006..10016302,3	K562	blood:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9987400-10003200	Weak transcription	Stomach Mucosa	stomach
3	chr2:9993000-10003600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:9993600-10007400	Weak transcription	Psoas Muscle	Psoas
5	chr2:9993800-10002600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:9993800-10002800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:9993800-10079600	Weak transcription	Gastric	stomach
8	chr2:9995400-10002600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:9995400-10002800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:9995600-10002600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
12	chr2:9996400-10016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:9997000-10002600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:9997400-10002000	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr2:9997800-10002800	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr2:9998200-10013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:9998200-10024000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:9998400-10007400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:9998600-10017000	Weak transcription	K562	blood
21	chr2:9998600-10024000	Weak transcription	Pancreas	Pancrea
22	chr2:9998800-10010400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:9998800-10010400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:9998800-10026000	Weak transcription	Fetal Brain Male	brain
25	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
26	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:9999000-10008600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:9999000-10010400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:9999000-10014200	Weak transcription	Aorta	Aorta
30	chr2:9999000-10014800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:9999000-10015200	Weak transcription	Esophagus	oesophagus
32	chr2:9999000-10015400	Weak transcription	HUVEC	blood vessel
33	chr2:9999000-10017600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:9999000-10024000	Weak transcription	Colonic Mucosa	Colon
35	chr2:9999000-10024000	Weak transcription	Spleen	Spleen
36	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
38	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:9999200-10007400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:9999200-10007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:9999200-10008000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:9999200-10013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:9999200-10013800	Weak transcription	Left Ventricle	heart
45	chr2:9999200-10017000	Weak transcription	HSMMtube	muscle
46	chr2:9999200-10017600	Weak transcription	Brain Anterior Caudate	brain
47	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:9999400-10008600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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