Variant report

Variant	rs554719907
Chromosome Location	chr5:36937192-36937193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36874459..36876976-chr5:36936493..36938823,2	K562	blood:
2	chr5:36876634..36880507-chr5:36935586..36937738,3	MCF-7	breast:
3	chr5:36935171..36938055-chr5:36942349..36945199,2	MCF-7	breast:
4	chr5:36874203..36876610-chr5:36934732..36937213,2	MCF-7	breast:
5	chr5:36906209..36908902-chr5:36936450..36938338,2	K562	blood:
6	chr5:36875949..36878043-chr5:36936778..36939206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
3	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:36919800-36961600	Weak transcription	K562	blood
5	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:36924800-36939000	Weak transcription	Fetal Thymus	thymus
9	chr5:36924800-36955200	Weak transcription	Dnd41	blood
10	chr5:36926600-36939400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:36929000-36938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:36929600-36947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:36929800-36937400	Weak transcription	HSMM	muscle
15	chr5:36929800-36939400	Weak transcription	Osteobl	bone
16	chr5:36930000-36938000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:36930000-36945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:36930800-36940000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:36931200-36939400	Weak transcription	Hela-S3	cervix
20	chr5:36931800-36938000	Weak transcription	Left Ventricle	heart
21	chr5:36931800-36938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:36931800-36938400	Weak transcription	Ovary	ovary
23	chr5:36932200-36940000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:36932200-36940000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:36932400-36943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:36933200-36940200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:36933200-36944000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:36933400-36949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:36934600-36941000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:36935200-36939000	Weak transcription	HUVEC	blood vessel
32	chr5:36935200-36939400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:36935200-36947200	Weak transcription	Primary T cells from cord blood	blood
34	chr5:36935400-36938400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:36935600-36938200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:36935600-36938200	Weak transcription	Psoas Muscle	Psoas
37	chr5:36936000-36938000	Weak transcription	Right Atrium	heart
38	chr5:36936000-36938800	Weak transcription	Small Intestine	intestine
39	chr5:36936000-36939800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:36936000-36951600	Weak transcription	Primary B cells from cord blood	blood
41	chr5:36936200-36937200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:36936200-36938200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:36936200-36940000	Weak transcription	Brain Anterior Caudate	brain
44	chr5:36936200-36944000	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:36936600-36938400	Enhancers	Fetal Heart	heart
46	chr5:36936800-36937200	Weak transcription	Liver	Liver
47	chr5:36936800-36937800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:36936800-36937800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:36936800-36938200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:36936800-36938200	Weak transcription	HepG2	liver

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