Variant report

Variant	rs72909139
Chromosome Location	chr2:38970549-38970550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
2	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
3	chr2:38800582..38805538-chr2:38967531..38972325,7	K562	blood:
4	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
5	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
6	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
7	chr2:38740585..38742433-chr2:38970055..38972090,2	K562	blood:
8	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:
9	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
10	chr2:38783818..38787523-chr2:38967718..38971056,4	K562	blood:
11	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
12	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
13	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
14	chr2:38968377..38971030-chr2:39036081..39038951,2	K562	blood:
15	chr2:38764868..38766444-chr2:38970080..38972434,2	K562	blood:
16	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
17	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
18	chr2:38969744..38972668-chr2:39079063..39081917,2	K562	blood:
19	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
20	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188010	Chromatin interaction
ENSG00000271443	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000223922	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17023056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3099964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727533	0.84[AFR][1000 genomes]
rs72897912	0.84[AFR][1000 genomes]
rs72897917	0.81[AFR][1000 genomes]
rs72909121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active 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	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	141 gene(s)	inside rSNPs	diseases
3	esv1797820	chr2:38941956-38972456	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv820974	chr2:38945458-38972971	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv1814150	chr2:38948483-38972456	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv1795154	chr2:38951608-38971432	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv1800732	chr2:38951608-38973837	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv2763640	chr2:38954419-38977371	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv581486	chr2:38955129-38971745	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv819664	chr2:38955537-38972936	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv828997	chr2:38955665-38972971	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1834061	chr2:38955862-38972281	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
13	esv1839313	chr2:38955862-38972281	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv441752	chr2:38955862-38972281	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv1820680	chr2:38955865-38973046	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	esv1831489	chr2:38955865-38973046	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
18	esv1835023	chr2:38955866-38972281	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv2421335	chr2:38955866-38972281	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
20	esv20771	chr2:38955877-38972830	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
21	nsv581489	chr2:38955977-38970979	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv581490	chr2:38955977-38973814	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
23	esv1834132	chr2:38955977-38977612	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases
24	esv1836070	chr2:38955977-38977612	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases
25	esv1820267	chr2:38956758-38972456	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
26	esv1849677	chr2:38956758-38972456	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
27	nsv581491	chr2:38960491-38971745	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
28	nsv581492	chr2:38960927-38971745	Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
29	esv1833767	chr2:38961629-38971745	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
30	esv1837084	chr2:38961629-38971745	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
31	esv1835626	chr2:38961815-38972101	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
32	esv1836093	chr2:38961815-38972101	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
33	esv1835355	chr2:38963952-38971745	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
2	chr2:38948400-38970600	Weak transcription	NHEK	skin
3	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
4	chr2:38950400-38973600	Weak transcription	Fetal Brain Male	brain
5	chr2:38950800-38972200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:38951000-38970600	Weak transcription	Fetal Heart	heart
7	chr2:38956600-38974200	Strong transcription	Fetal Thymus	thymus
8	chr2:38958400-38971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:38960600-38971600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:38961000-38972200	Weak transcription	Esophagus	oesophagus
11	chr2:38962600-38971200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:38963200-38971600	Strong transcription	Dnd41	blood
13	chr2:38963400-38971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:38964400-38974000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:38964600-38973800	Strong transcription	K562	blood
16	chr2:38964600-38974000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:38965400-38970600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:38965400-38971200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:38965400-38971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:38965400-38971800	Weak transcription	Spleen	Spleen
21	chr2:38965400-38972400	Weak transcription	Aorta	Aorta
22	chr2:38965400-38972400	Weak transcription	Pancreas	Pancrea
23	chr2:38965400-38972600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:38965400-38974800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:38965400-38974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:38965600-38971200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:38965600-38971600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:38966000-38974200	Weak transcription	Right Ventricle	heart
29	chr2:38966400-38972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:38966600-38974200	Strong transcription	HMEC	breast
31	chr2:38966800-38971200	Strong transcription	HSMM	muscle
32	chr2:38967000-38971600	Weak transcription	Gastric	stomach
33	chr2:38967000-38973800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:38967000-38973800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:38967200-38970600	Strong transcription	A549	lung
36	chr2:38967200-38974600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:38967400-38973600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:38968000-38974200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:38968000-38976000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:38968200-38970600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:38968200-38971000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:38968200-38971800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:38968200-38974200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:38968200-38974800	Strong transcription	Osteobl	bone
45	chr2:38968200-38976200	Genic enhancers	Liver	Liver
46	chr2:38968200-38976200	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:38968200-38976400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:38968400-38970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:38968400-38970600	Strong transcription	Fetal Stomach	stomach
50	chr2:38968400-38970800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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