Variant report

Variant	rs12531095
Chromosome Location	chr7:69934729-69934730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12533923	1.00[AFR][1000 genomes]
rs17489408	1.00[AFR][1000 genomes]
rs2189771	1.00[AFR][1000 genomes]
rs62455222	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62455223	0.80[AMR][1000 genomes]
rs62455224	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62455226	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62455227	0.80[AMR][1000 genomes]
rs62455783	1.00[AFR][1000 genomes]
rs62455793	1.00[AFR][1000 genomes]
rs62455795	1.00[AFR][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	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:69923200-69939800	Weak transcription	Right Ventricle	heart
3	chr7:69923400-69936800	Weak transcription	Fetal Brain Female	brain
4	chr7:69923600-69946600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:69924000-69935400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:69924000-69943200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:69924200-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:69924800-69935400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69924800-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:69925000-69936800	Weak transcription	Fetal Stomach	stomach
11	chr7:69928600-69935400	Weak transcription	Fetal Kidney	kidney
12	chr7:69928800-69935200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:69929200-69935600	Weak transcription	Left Ventricle	heart
14	chr7:69929400-69935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:69929400-69939200	Weak transcription	Pancreas	Pancrea
16	chr7:69929800-69936000	Weak transcription	Fetal Heart	heart
17	chr7:69930200-69935600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:69931800-69935200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:69932400-69935200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:69932600-69934800	Weak transcription	Primary T cells from cord blood	blood
21	chr7:69932600-69946600	Weak transcription	Fetal Intestine Small	intestine

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