Variant report

Variant	rs72785099
Chromosome Location	chr2:37178739-37178740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37172866..37175406-chr2:37175824..37179648,3	K562	blood:
2	chr2:37177111..37181482-chr2:37191828..37195720,6	K562	blood:
3	chr2:37178708..37181757-chr2:37186451..37189009,3	K562	blood:
4	chr2:37178708..37180301-chr2:37186224..37188629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction
ENSG00000252518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17446088	1.00[ASN][1000 genomes]
rs2004102	1.00[ASN][1000 genomes]
rs55852663	1.00[ASN][1000 genomes]

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	nsv961397	chr2:37173966-37180387	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
3	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:37142000-37178800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:37143800-37191800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:37150200-37191800	Weak transcription	Fetal Thymus	thymus
8	chr2:37152400-37191800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:37154200-37179400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:37154600-37178800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:37154600-37179000	Weak transcription	Esophagus	oesophagus
12	chr2:37154600-37191800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:37154800-37178800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:37154800-37185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:37155000-37183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:37158000-37183600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:37158200-37178800	Weak transcription	Left Ventricle	heart
18	chr2:37158200-37192000	Weak transcription	Ovary	ovary
19	chr2:37158600-37191800	Weak transcription	Fetal Lung	lung
20	chr2:37159000-37191800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:37164800-37178800	Weak transcription	Lung	lung
22	chr2:37165000-37190800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:37165600-37179000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:37165600-37191800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:37166600-37191600	Weak transcription	Dnd41	blood
26	chr2:37168600-37191800	Weak transcription	Thymus	Thymus
27	chr2:37169600-37179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:37169800-37186800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:37176200-37191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:37176400-37183800	Weak transcription	HepG2	liver
31	chr2:37176800-37180400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:37177000-37179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:37177000-37182200	Weak transcription	GM12878-XiMat	blood
34	chr2:37177200-37180000	Enhancers	HUVEC	blood vessel
35	chr2:37177200-37180200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:37177400-37179000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:37177600-37178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:37177600-37178800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:37177600-37179200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:37177600-37179200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:37177600-37179400	Strong transcription	Primary T cells from cord blood	blood
42	chr2:37177600-37181000	Enhancers	Hela-S3	cervix
43	chr2:37177800-37179200	Enhancers	NH-A	brain
44	chr2:37177800-37179600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:37177800-37179600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:37177800-37180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:37177800-37180400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:37177800-37180400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:37177800-37180400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:37177800-37180400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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