Variant report

Variant	rs4720675
Chromosome Location	chr7:6505347-6505348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:
2	chr7:6505053..6507706-chr7:6514500..6517460,3	K562	blood:
3	chr7:6504061..6507520-chr7:6522286..6524549,3	K562	blood:
4	chr7:6503445..6506169-chr7:6511956..6514111,2	K562	blood:

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000136240	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10951985	0.81[ASN][1000 genomes]
rs11761728	0.98[ASN][1000 genomes]
rs11768661	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12112241	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12702511	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702512	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702514	0.91[ASW][hapmap];0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13222291	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13240753	0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs17136294	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4574760	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs55707863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62454714	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6974535	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9801058	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription 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	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4720675	CARD11	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:6497800-6515600	Weak transcription	Psoas Muscle	Psoas
5	chr7:6499200-6505600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:6499600-6506000	Strong transcription	Fetal Intestine Small	intestine
7	chr7:6499600-6510200	Strong transcription	Lung	lung
8	chr7:6499600-6515200	Strong transcription	Fetal Intestine Large	intestine
9	chr7:6499600-6516200	Strong transcription	Fetal Stomach	stomach
10	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:6499800-6505400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:6499800-6505600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:6499800-6505600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:6499800-6505600	Strong transcription	Fetal Brain Female	brain
15	chr7:6499800-6506000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:6499800-6506400	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:6499800-6511800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:6499800-6513400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:6499800-6513400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr7:6499800-6513800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:6499800-6513800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr7:6499800-6514800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:6499800-6515600	Strong transcription	NH-A	brain
24	chr7:6499800-6517000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:6500000-6505800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:6500000-6510200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:6500000-6513000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:6500000-6513600	Strong transcription	Adipose Nuclei	Adipose
29	chr7:6500000-6514600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:6500000-6515000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:6500000-6515400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr7:6500000-6515400	Strong transcription	HUVEC	blood vessel
33	chr7:6500000-6516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:6500000-6516200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:6500000-6516400	Strong transcription	Fetal Thymus	thymus
36	chr7:6500200-6505800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:6500200-6506000	Strong transcription	Thymus	Thymus
38	chr7:6500200-6506200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:6500200-6513200	Strong transcription	Ovary	ovary
40	chr7:6500200-6514000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:6500200-6515200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:6500200-6515400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:6500200-6516200	Strong transcription	Placenta	Placenta
44	chr7:6500200-6516400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:6500400-6506000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:6500400-6506400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:6500400-6507800	Strong transcription	NHEK	skin
48	chr7:6500400-6514000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:6500400-6514200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:6500600-6513200	Strong transcription	Left Ventricle	heart

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