Variant report

Variant	rs7260246
Chromosome Location	chr19:55903324-55903325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
2	chr19:55901176..55903609-chr19:56015366..56016869,2	K562	blood:
3	chr19:55791572..55793348-chr19:55900971..55904360,3	K562	blood:
4	chr19:55901947..55903486-chr19:56163759..56166396,2	K562	blood:
5	chr19:55682815..55684434-chr19:55902687..55904944,2	K562	blood:
6	chr19:55901062..55903652-chr19:55943271..55945381,2	K562	blood:
7	chr19:55791572..55793348-chr19:55900971..55903516,2	K562	blood:
8	chr19:55768308..55771050-chr19:55902034..55903717,2	MCF-7	breast:
9	chr19:55901718..55903735-chr19:55970894..55973271,2	K562	blood:
10	chr19:55902476..55904959-chr19:56008712..56011316,2	K562	blood:
11	chr19:55901948..55903653-chr19:55965292..55966908,2	K562	blood:
12	chr19:55780112..55782916-chr19:55901581..55903406,2	MCF-7	breast:
13	chr19:55828032..55829651-chr19:55900502..55903432,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267649	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000063244	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10426959	1.00[TSI][hapmap]
rs16986304	1.00[MEX][hapmap]
rs1870075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252572	1.00[MEX][hapmap]
rs4806652	1.00[MEX][hapmap]
rs60932320	1.00[EUR][1000 genomes]
rs7260639	1.00[EUR][1000 genomes]
rs8104220	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8113269	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
2	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
6	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
7	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
8	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	196 gene(s)	inside rSNPs	diseases
9	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
10	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55899200-55903400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
2	chr19:55899200-55913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:55899400-55903400	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr19:55899600-55903600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:55899600-55904400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:55900000-55903400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:55900000-55904400	Strong transcription	Fetal Stomach	stomach
8	chr19:55900200-55903600	Strong transcription	Osteobl	bone
9	chr19:55900200-55903800	Strong transcription	Primary B cells from cord blood	blood
10	chr19:55900200-55904400	Strong transcription	Thymus	Thymus
11	chr19:55900200-55918400	Weak transcription	Psoas Muscle	Psoas
12	chr19:55900400-55903400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr19:55900400-55903600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr19:55900400-55903800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:55900400-55904600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:55900400-55911800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:55900600-55903400	Genic enhancers	NHLF	lung
18	chr19:55900600-55903600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:55900600-55903800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:55900600-55903800	Strong transcription	Brain Anterior Caudate	brain
21	chr19:55900600-55917600	Weak transcription	Stomach Mucosa	stomach
22	chr19:55900800-55903800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:55900800-55903800	Strong transcription	Liver	Liver
24	chr19:55901000-55903400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:55901000-55903400	Strong transcription	Fetal Thymus	thymus
26	chr19:55901000-55903400	Genic enhancers	A549	lung
27	chr19:55901000-55903600	Strong transcription	Primary T cells from cord blood	blood
28	chr19:55901000-55903600	Strong transcription	Colon Smooth Muscle	Colon
29	chr19:55901000-55903800	Strong transcription	Adipose Nuclei	Adipose
30	chr19:55901000-55917800	Weak transcription	Right Atrium	heart
31	chr19:55901200-55903400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:55901200-55903800	Strong transcription	Fetal Intestine Large	intestine
33	chr19:55901200-55903800	Strong transcription	Placenta	Placenta
34	chr19:55901200-55913200	Weak transcription	Small Intestine	intestine
35	chr19:55901400-55903800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:55901400-55903800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:55901400-55904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:55901400-55912000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:55901600-55903800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:55901600-55903800	Strong transcription	Dnd41	blood
41	chr19:55901600-55904400	Strong transcription	Fetal Brain Female	brain
42	chr19:55901600-55904600	Strong transcription	Lung	lung
43	chr19:55901600-55911800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr19:55901600-55911800	Weak transcription	HUVEC	blood vessel
45	chr19:55901600-55912000	Weak transcription	HSMM	muscle
46	chr19:55901600-55914400	Weak transcription	Fetal Kidney	kidney
47	chr19:55901800-55903600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:55901800-55904200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr19:55901800-55904400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:55901800-55905200	Enhancers	HUES48 Cell Line	embryonic stem cell

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