Variant report

Variant	rs61588149
Chromosome Location	chr17:19314856-19314857
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	POLR2A	chr17:19314138-19314990	U87	brain:	n/a	n/a
2	PBX3	chr17:19314130-19314927	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr17:19313987-19314913	SK-N-SH_RA	brain:	n/a	n/a
4	SMC3	chr17:19313388-19315505	SK-N-SH	brain:	n/a	chr17:19313983-19313997
5	REST	chr17:19313721-19315060	H1-neurons	neurons:	n/a	chr17:19314285-19314299
6	MXI1	chr17:19313963-19315709	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr17:19313780-19315700	SK-N-SH	brain:	n/a	chr17:19315599-19315608

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19287526..19290337-chr17:19313959..19316527,2	MCF-7	breast:
2	chr17:19015305..19016887-chr17:19313354..19316219,2	K562	blood:

Variant related genes	Relation type
RNF112	TF binding region
ENSG00000166482	Chromatin interaction
ENSG00000262202	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12073	0.92[AFR][1000 genomes]
rs61668687	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064651	chr17:19142280-19349054	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv1828682	chr17:19168912-19358443	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv482384	chr17:19192964-19354971	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19312600-19315600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr17:19313000-19315000	Enhancers	Placenta	Placenta
3	chr17:19313000-19315200	Enhancers	Esophagus	oesophagus
4	chr17:19313200-19315400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:19313200-19317200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:19313400-19315000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr17:19313400-19316000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:19313600-19315000	Active TSS	Colonic Mucosa	Colon
9	chr17:19313600-19315400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr17:19313600-19315400	Enhancers	Lung	lung
11	chr17:19313600-19315600	Enhancers	Spleen	Spleen
12	chr17:19313800-19315200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:19314000-19315200	Active TSS	Brain Substantia Nigra	brain
14	chr17:19314000-19315400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:19314000-19315400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr17:19314000-19316400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr17:19314200-19315000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr17:19314200-19315200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr17:19314200-19315200	Active TSS	Duodenum Mucosa	Duodenum
20	chr17:19314200-19315400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:19314200-19315400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr17:19314200-19316400	Active TSS	Brain Angular Gyrus	brain
23	chr17:19314200-19316400	Active TSS	Brain Hippocampus Middle	brain
24	chr17:19314400-19315000	Active TSS	Right Ventricle	heart
25	chr17:19314400-19315000	Flanking Active TSS	NH-A	brain
26	chr17:19314400-19315200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr17:19314400-19318800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:19314400-19319800	Weak transcription	Gastric	stomach
29	chr17:19314600-19315000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr17:19314600-19315000	Active TSS	Right Atrium	heart
31	chr17:19314600-19315200	Active TSS	Fetal Brain Female	brain
32	chr17:19314600-19315400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:19314600-19315400	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:19314600-19315600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:19314600-19316400	Active TSS	Brain Cingulate Gyrus	brain
36	chr17:19314600-19316600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:19314600-19320800	Weak transcription	Fetal Thymus	thymus
38	chr17:19314800-19315000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:19314800-19315000	Enhancers	Adipose Nuclei	Adipose
40	chr17:19314800-19315000	Active TSS	Brain Anterior Caudate	brain
41	chr17:19314800-19315000	Active TSS	Brain Germinal Matrix	brain
42	chr17:19314800-19315000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr17:19314800-19315000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr17:19314800-19315000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr17:19314800-19315000	Active TSS	Stomach Smooth Muscle	stomach
46	chr17:19314800-19315000	Enhancers	NHDF-Ad	bronchial
47	chr17:19314800-19315000	Enhancers	NHLF	lung
48	chr17:19314800-19315200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:19314800-19315400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr17:19314800-19315400	Enhancers	H1 Cell Line	embryonic stem cell

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