Variant report

Variant	rs11672523
Chromosome Location	chr19:41001101-41001102
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	BHLHE40	chr19:41001081-41001258	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40994364..40996356-chr19:41000367..41003133,2	K562	blood:
2	chr19:41000405..41002766-chr19:41007781..41010013,2	K562	blood:
3	chr19:40969313..40973690-chr19:41000747..41005610,5	MCF-7	breast:
4	chr19:40994856..40997744-chr19:40999526..41002242,3	K562	blood:

Variant related genes	Relation type
SPTBN4	TF binding region
ENSG00000160460	Chromatin interaction
ENSG00000090013	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11670988	1.00[ASW][hapmap]
rs11672651	1.00[ASW][hapmap]
rs8106578	0.91[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40973400-41017200	Weak transcription	Brain Substantia Nigra	brain
2	chr19:40986800-41018600	Weak transcription	Right Atrium	heart
3	chr19:40994000-41014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:40994000-41018400	Weak transcription	Psoas Muscle	Psoas
5	chr19:40994200-41005200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:40994400-41003000	Weak transcription	Spleen	Spleen
7	chr19:40994400-41003400	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:40994600-41003000	Weak transcription	Aorta	Aorta
9	chr19:40994600-41018200	Weak transcription	Adipose Nuclei	Adipose
10	chr19:40996600-41001800	Weak transcription	K562	blood
11	chr19:40998200-41001200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr19:40998200-41003400	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:40999000-41003200	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:40999000-41007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:40999800-41003000	Weak transcription	Brain Germinal Matrix	brain
16	chr19:41000000-41003000	Weak transcription	Ovary	ovary
17	chr19:41000000-41018200	Weak transcription	Right Ventricle	heart
18	chr19:41000400-41001400	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:41000600-41002800	Strong transcription	Fetal Brain Female	brain
20	chr19:41000600-41004000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr19:41000800-41004000	Strong transcription	Brain Angular Gyrus	brain
22	chr19:41000800-41004200	Strong transcription	Brain Anterior Caudate	brain
23	chr19:41000800-41004400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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