Variant report

Variant	rs2073931
Chromosome Location	chr9:136728590-136728591
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136721577..136724425-chr9:136727514..136729956,2	K562	blood:
2	chr9:136727983..136729228-chr9:136738456..136739459,6	MCF-7	breast:
3	chr9:136708649..136711470-chr9:136728033..136729956,2	MCF-7	breast:
4	chr9:136728244..136728911-chr9:136739593..136740116,2	MCF-7	breast:
5	chr9:136724408..136730266-chr9:136853620..136859994,16	MCF-7	breast:
6	chr9:136725437..136727832-chr9:136728228..136730381,2	K562	blood:
7	chr9:136700961..136707109-chr9:136726164..136730903,8	MCF-7	breast:
8	chr9:136727889..136730312-chr9:136777373..136780335,2	MCF-7	breast:
9	chr9:136726221..136733157-chr9:136853321..136860155,11	MCF-7	breast:
10	chr9:132257483..132259115-chr9:136727487..136729883,2	MCF-7	breast:
11	chr9:136728084..136729050-chr9:136757437..136758126,4	MCF-7	breast:
12	chr9:136655858..136660240-chr9:136726638..136729094,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction
ENSG00000204054	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10116617	1.00[AMR][1000 genomes]
rs10993818	1.00[AMR][1000 genomes]
rs10993831	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59276842	1.00[AMR][1000 genomes]
rs59444320	1.00[AMR][1000 genomes]
rs7022973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030201	1.00[ASN][1000 genomes]
rs7048218	1.00[ASN][1000 genomes]
rs73663861	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136705800-136729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:136709000-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:136710800-136728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:136711400-136737800	Weak transcription	NH-A	brain
5	chr9:136714600-136729400	Weak transcription	NHEK	skin
6	chr9:136717200-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:136721200-136728600	Weak transcription	HSMMtube	muscle
8	chr9:136721200-136729800	Weak transcription	A549	lung
9	chr9:136721400-136738600	Weak transcription	HUVEC	blood vessel
10	chr9:136722000-136728800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:136723800-136730000	Weak transcription	Hela-S3	cervix
12	chr9:136724600-136729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:136725600-136728600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:136725600-136729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:136725800-136728600	Enhancers	Fetal Brain Male	brain
16	chr9:136725800-136730000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:136726200-136728600	Enhancers	Fetal Brain Female	brain
18	chr9:136726200-136729200	Enhancers	Brain Germinal Matrix	brain
19	chr9:136726200-136735400	Weak transcription	Aorta	Aorta
20	chr9:136726400-136728600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:136726400-136729200	Weak transcription	HMEC	breast
22	chr9:136726400-136730200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:136726600-136728600	Weak transcription	Pancreas	Pancrea
24	chr9:136726600-136728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:136726600-136729000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:136726600-136729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:136726600-136729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:136726600-136735200	Weak transcription	Gastric	stomach
29	chr9:136726800-136729600	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:136727000-136728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:136727000-136728800	Weak transcription	GM12878-XiMat	blood
32	chr9:136727000-136729000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:136727000-136729200	Weak transcription	Fetal Intestine Large	intestine
34	chr9:136727000-136729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:136727000-136729400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:136727000-136729600	Enhancers	Primary B cells from peripheral blood	blood
37	chr9:136727000-136730000	Enhancers	Fetal Muscle Leg	muscle
38	chr9:136727000-136730000	Enhancers	Placenta	Placenta
39	chr9:136727000-136730000	Enhancers	Spleen	Spleen
40	chr9:136727200-136728800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:136727200-136730000	Enhancers	Lung	lung
42	chr9:136727400-136729000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr9:136727400-136729600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:136727400-136729600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr9:136727600-136728600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:136727600-136728600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr9:136727600-136728600	Weak transcription	Liver	Liver
48	chr9:136727600-136728600	Weak transcription	Colonic Mucosa	Colon
49	chr9:136727600-136729600	Enhancers	HSMM	muscle
50	chr9:136727600-136729800	Enhancers	Right Ventricle	heart

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