Variant report

Variant	rs4801650
Chromosome Location	chr19:55970985-55970986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:55970872-55971108	K562	blood:	n/a	chr19:55970971-55970978
2	CREB1	chr19:55970951-55973852	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:55970884-55971483	K562	blood:	n/a	n/a
4	MXI1	chr19:55970854-55974161	SK-N-SH	brain:	n/a	chr19:55972751-55972760 chr19:55973016-55973025

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55849599..55852921-chr19:55970880..55974521,5	K562	blood:
2	chr19:55918951..55921734-chr19:55969699..55972371,2	MCF-7	breast:
3	chr19:55683305..55685405-chr19:55969607..55972457,2	K562	blood:
4	chr19:55949680..55954432-chr19:55969839..55974899,6	K562	blood:
5	chr19:55848855..55851022-chr19:55968607..55971004,2	MCF-7	breast:
6	chr19:55969994..55973672-chr19:56134456..56137440,3	MCF-7	breast:
7	chr19:55970695..55974702-chr19:56000504..56005506,6	K562	blood:
8	chr19:55627390..55629908-chr19:55969619..55972403,2	K562	blood:
9	chr19:55677572..55679137-chr19:55970708..55972707,2	K562	blood:
10	chr19:55667256..55669360-chr19:55970897..55972567,2	K562	blood:
11	chr19:55970859..55974182-chr19:56164245..56166880,4	K562	blood:
12	chr19:55918465..55920775-chr19:55969275..55971048,2	K562	blood:
13	chr19:55953960..55955842-chr19:55970927..55973653,2	MCF-7	breast:
14	chr19:55917592..55920632-chr19:55969275..55975218,9	K562	blood:
15	chr19:55916326..55922315-chr19:55969733..55974780,9	MCF-7	breast:
16	chr19:55966841..55969896-chr19:55969994..55973204,5	MCF-7	breast:
17	chr19:55894730..55901388-chr19:55970612..55975937,9	K562	blood:
18	chr19:55970737..55974830-chr19:55992708..55996652,6	K562	blood:

No data

Variant related genes	Relation type
ISOC2	TF binding region
ENSG00000267531	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000133247	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61555067	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55963800-55971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:55964000-55971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:55964000-55971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:55964000-55971200	Weak transcription	NHLF	lung
5	chr19:55964000-55971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:55964000-55971800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:55964200-55971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:55964200-55971000	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:55964200-55971000	Weak transcription	Left Ventricle	heart
10	chr19:55964200-55971000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:55964200-55971200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:55964200-55971200	Weak transcription	Osteobl	bone
13	chr19:55964200-55971400	Weak transcription	HUVEC	blood vessel
14	chr19:55964200-55971600	Weak transcription	NHEK	skin
15	chr19:55964200-55972200	Weak transcription	Small Intestine	intestine
16	chr19:55964400-55971000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:55964400-55971000	Weak transcription	Stomach Mucosa	stomach
18	chr19:55964400-55971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr19:55964400-55972000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:55964400-55972000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:55964600-55971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:55964600-55972200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:55964600-55972200	Weak transcription	Primary T cells from cord blood	blood
24	chr19:55964800-55971000	Weak transcription	Fetal Brain Male	brain
25	chr19:55964800-55971000	Weak transcription	Fetal Brain Female	brain
26	chr19:55964800-55971400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:55964800-55971600	Weak transcription	Right Atrium	heart
28	chr19:55964800-55972000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:55964800-55972200	Weak transcription	Primary B cells from cord blood	blood
30	chr19:55964800-55972200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:55965000-55971200	Weak transcription	A549	lung
32	chr19:55965000-55971600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:55965000-55972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:55965400-55971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:55965600-55971000	Weak transcription	Fetal Intestine Large	intestine
36	chr19:55966000-55971200	Weak transcription	GM12878-XiMat	blood
37	chr19:55966200-55971000	Weak transcription	Brain Substantia Nigra	brain
38	chr19:55966200-55971200	Weak transcription	Brain Angular Gyrus	brain
39	chr19:55966400-55971000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:55966400-55971200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:55966800-55971200	Weak transcription	HSMM	muscle
42	chr19:55967000-55971200	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:55967000-55972200	Weak transcription	Right Ventricle	heart
44	chr19:55967200-55971000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr19:55967200-55972400	Weak transcription	Thymus	Thymus
46	chr19:55967400-55971000	Weak transcription	Placenta	Placenta
47	chr19:55967600-55971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:55967800-55971000	Weak transcription	Dnd41	blood
49	chr19:55968000-55971000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:55968000-55971000	Weak transcription	Colonic Mucosa	Colon

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