Variant report

Variant	rs540579502
Chromosome Location	chr1:224202613-224202614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv873215	chr1:224075483-224204433	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv873216	chr1:224075483-224230307	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv873218	chr1:224097155-224204433	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv873219	chr1:224097155-224216822	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv873220	chr1:224097155-224223659	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv549241	chr1:224103992-224216757	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv549242	chr1:224115297-224203918	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv549243	chr1:224115297-224216757	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv549244	chr1:224183599-224202820	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv549245	chr1:224183599-224203686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv549246	chr1:224183599-224203833	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv549247	chr1:224183599-224203918	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv549248	chr1:224183599-224216757	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv549249	chr1:224183599-224216822	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1847784	chr1:224185036-224227122	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1795476	chr1:224186148-224226044	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv3350171	chr1:224198229-224205327	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	inside rSNPs	n/a
21	esv3393344	chr1:224198229-224205427	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	inside rSNPs	n/a
22	esv11310	chr1:224199356-224204485	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
23	nsv821379	chr1:224199356-224204485	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
24	esv6246	chr1:224200966-224203777	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
25	nsv549250	chr1:224201825-224203833	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
26	esv1847901	chr1:224201825-224203918	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
27	esv1850537	chr1:224201825-224203918	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
28	nsv549251	chr1:224201825-224203918	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
29	nsv549252	chr1:224201825-224216757	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv3435831	chr1:224201912-224203768	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
31	nsv549253	chr1:224201927-224203244	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
32	nsv549254	chr1:224201927-224203686	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
33	nsv549255	chr1:224201927-224203918	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
34	nsv549256	chr1:224201927-224216757	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
35	nsv549257	chr1:224202213-224203918	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
36	nsv549258	chr1:224202461-224203918	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224198800-224204200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224199000-224204400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:224199200-224202800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:224199200-224202800	ZNF genes & repeats	GM12878-XiMat	blood
5	chr1:224199200-224203800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:224199200-224203800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:224199200-224203800	ZNF genes & repeats	Aorta	Aorta
8	chr1:224199200-224203800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:224199200-224203800	ZNF genes & repeats	K562	blood
10	chr1:224199200-224203800	ZNF genes & repeats	Osteobl	bone
11	chr1:224199200-224204000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:224199200-224204000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:224199200-224204000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
17	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr1:224199200-224204000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:224199200-224204000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
21	chr1:224199200-224204000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
22	chr1:224199200-224204000	ZNF genes & repeats	Brain Angular Gyrus	brain
23	chr1:224199200-224204000	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr1:224199200-224204000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr1:224199200-224204000	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr1:224199200-224204000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr1:224199200-224204000	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr1:224199200-224204000	ZNF genes & repeats	Colonic Mucosa	Colon
29	chr1:224199200-224204000	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr1:224199200-224204000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr1:224199200-224204000	ZNF genes & repeats	Fetal Brain Male	brain
32	chr1:224199200-224204000	ZNF genes & repeats	Fetal Heart	heart
33	chr1:224199200-224204000	ZNF genes & repeats	Fetal Kidney	kidney
34	chr1:224199200-224204000	ZNF genes & repeats	Fetal Lung	lung
35	chr1:224199200-224204000	ZNF genes & repeats	Pancreas	Pancrea
36	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
39	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr1:224199200-224204000	ZNF genes & repeats	Stomach Mucosa	stomach
41	chr1:224199200-224204000	ZNF genes & repeats	Spleen	Spleen
42	chr1:224199200-224204000	ZNF genes & repeats	A549	lung
43	chr1:224199200-224204000	ZNF genes & repeats	Dnd41	blood
44	chr1:224199200-224204000	ZNF genes & repeats	HUVEC	blood vessel
45	chr1:224199200-224204200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr1:224199200-224204200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr1:224199200-224204200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr1:224199200-224204200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr1:224199200-224204200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr1:224199200-224204200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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