Variant report

Variant	rs7395631
Chromosome Location	chr11:9234602-9234603
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	chr11:9223393..9225433-chr11:9231691..9234653,2	K562	blood:
2	chr11:9227104..9229815-chr11:9232827..9234666,3	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10454487	1.00[ASN][1000 genomes]
rs10840188	1.00[ASN][1000 genomes]
rs10840189	1.00[ASN][1000 genomes]
rs11042215	1.00[ASN][1000 genomes]
rs11042217	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042220	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042224	1.00[ASN][1000 genomes]
rs11042228	1.00[ASN][1000 genomes]
rs11042230	1.00[ASN][1000 genomes]
rs11042231	1.00[ASN][1000 genomes]
rs11042232	1.00[ASN][1000 genomes]
rs11042233	1.00[ASN][1000 genomes]
rs11042240	1.00[ASN][1000 genomes]
rs11042241	1.00[ASN][1000 genomes]
rs11042242	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042246	1.00[ASN][1000 genomes]
rs11042253	1.00[ASN][1000 genomes]
rs11607384	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12286621	1.00[ASN][1000 genomes]
rs12360767	1.00[ASN][1000 genomes]
rs12363839	1.00[ASN][1000 genomes]
rs12807631	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17257379	1.00[ASN][1000 genomes]
rs2014868	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2133215	1.00[ASN][1000 genomes]
rs4910037	0.81[EUR][1000 genomes]
rs55962227	1.00[ASN][1000 genomes]
rs56294473	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693427	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486204	1.00[ASN][1000 genomes]
rs6486209	1.00[ASN][1000 genomes]
rs66554737	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67890540	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7121753	1.00[ASN][1000 genomes]
rs7129049	1.00[ASN][1000 genomes]
rs7130400	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859676	1.00[ASN][1000 genomes]
rs72859678	1.00[ASN][1000 genomes]
rs72859693	1.00[ASN][1000 genomes]
rs7394454	1.00[ASN][1000 genomes]
rs7394869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926864	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7929621	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936622	1.00[ASN][1000 genomes]
rs7938562	1.00[ASN][1000 genomes]
rs7940872	1.00[ASN][1000 genomes]
rs7945570	1.00[ASN][1000 genomes]
rs7949349	1.00[ASN][1000 genomes]
rs9645644	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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
2	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
3	chr11:9225400-9236800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:9225800-9236200	Weak transcription	Thymus	Thymus
5	chr11:9225800-9237800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:9225800-9237800	Weak transcription	Gastric	stomach
7	chr11:9226000-9236400	Weak transcription	Lung	lung
8	chr11:9226000-9236800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
10	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:9226200-9236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:9227200-9236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:9227400-9236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:9227400-9236400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
17	chr11:9227600-9236400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:9228400-9236400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:9228400-9236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:9228400-9236600	Weak transcription	HUVEC	blood vessel
22	chr11:9229200-9236400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:9229800-9235200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:9229800-9237600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:9230200-9235200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9230600-9235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9230800-9236600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:9231000-9235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:9231000-9236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:9231000-9236200	Weak transcription	Right Atrium	heart
33	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:9231200-9235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:9231200-9235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:9231200-9235800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:9231200-9236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:9231200-9236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:9231200-9236400	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:9231200-9241200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:9231400-9235600	Weak transcription	Right Ventricle	heart
42	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:9232200-9235800	Weak transcription	Brain Angular Gyrus	brain
44	chr11:9232400-9236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:9232400-9236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:9232400-9236400	Weak transcription	Spleen	Spleen
47	chr11:9232600-9235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:9232600-9235400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:9232600-9236000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:9232600-9236200	Weak transcription	Brain Substantia Nigra	brain

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