Variant report

Variant	rs11984316
Chromosome Location	chr7:7787006-7787007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr7:7787006-7787112	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234718	TF binding region
RPL23AP51	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10281466	0.87[ASN][1000 genomes]
rs12112667	1.00[CHB][hapmap]
rs1541549	0.89[ASN][1000 genomes]
rs1541550	1.00[ASN][1000 genomes]
rs1541552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137001	0.85[CEU][hapmap]
rs17137195	1.00[ASN][1000 genomes]
rs17137236	0.87[ASN][1000 genomes]
rs17137480	1.00[CHB][hapmap]
rs17482123	1.00[CHB][hapmap]
rs2068638	0.82[CEU][hapmap]
rs2110553	1.00[CHB][hapmap]
rs4725015	1.00[CHB][hapmap]
rs4725024	1.00[CHB][hapmap]
rs6963595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971274	0.82[CEU][hapmap]
rs717297	1.00[CHB][hapmap]
rs7456324	1.00[CHB][hapmap]
rs7777879	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887488	chr7:7770203-7794484	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7752600-7790400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7759400-7791200	Weak transcription	Esophagus	oesophagus
3	chr7:7771600-7791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:7773000-7802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:7778600-7797400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:7779000-7787200	Weak transcription	Small Intestine	intestine
7	chr7:7779800-7796000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:7779800-7800200	Weak transcription	Thymus	Thymus
9	chr7:7783000-7791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:7784800-7787200	Enhancers	Fetal Heart	heart
11	chr7:7785400-7787200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:7785600-7800800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:7785800-7791200	Weak transcription	Psoas Muscle	Psoas
14	chr7:7786000-7791200	Weak transcription	Right Ventricle	heart
15	chr7:7786200-7788800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:7786200-7791000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:7786400-7790600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:7786400-7791200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:7786400-7800200	Weak transcription	Fetal Thymus	thymus
20	chr7:7786600-7789200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:7786600-7790200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:7786600-7790200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:7786600-7790400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:7786800-7789800	Weak transcription	Stomach Mucosa	stomach

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