Variant report

Variant	rs193067255
Chromosome Location	chr5:37248716-37248717
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	chr5:37248697-37249820	IMR90	lung:	n/a	n/a
2	BRCA1	chr5:37248654-37249941	Hela-S3	cervix:	n/a	n/a
3	SMARCC2	chr5:37248661-37250239	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr5:37248557-37250301	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr5:37248593-37249798	A549	lung:	n/a	n/a
6	POLR2A	chr5:37248576-37248911	H1-neurons	neurons:	n/a	n/a
7	SIN3A	chr5:37248634-37250194	H1-hESC	embryonic stem cell:	n/a	chr5:37249500-37249509 chr5:37249871-37249880
8	ZNF263	chr5:37248606-37250281	HEK293-T-REx	kidney:	n/a	chr5:37249645-37249654
9	SMARCC1	chr5:37248601-37250329	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr5:37248716-37249930	GM12878	blood:	n/a	n/a
11	GTF2F1	chr5:37248652-37250106	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr5:37248560-37250378	Hela-S3	cervix:	n/a	chr5:37249491-37249501
13	REST	chr5:37248474-37250115	H1-neurons	neurons:	n/a	chr5:37249200-37249210 chr5:37249757-37249770 chr5:37249070-37249083
14	GTF3C2	chr5:37248346-37249068	Hela-S3	cervix:	n/a	n/a
15	MAX	chr5:37248664-37250269	NB4	blood:	n/a	n/a
16	CHD2	chr5:37248652-37250257	Hela-S3	cervix:	n/a	chr5:37249646-37249656 chr5:37249636-37249646 chr5:37249762-37249772
17	POLR2A	chr5:37248692-37249894	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:37248706-37250165	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr5:37248658-37249505	Hela-S3	cervix:	n/a	chr5:37249491-37249501
20	SIN3AK20	chr5:37248566-37248889	PANC-1	pancreas:	n/a	n/a
21	SMARCB1	chr5:37248496-37250255	Hela-S3	cervix:	n/a	n/a
22	MAX	chr5:37248576-37250166	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:37248589-37250340	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr5:37248702-37249800	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:37248621-37249928	MCF10A-Er-Src	breast:	n/a	n/a
26	MXI1	chr5:37248421-37250457	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
2	chr5:37248619..37249243-chr7:5562577..5563334,2	Hela-S3	cervix:
3	chr11:75110443..75111008-chr5:37248561..37249187,2	Hela-S3	cervix:
4	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL37P	TF binding region
C5orf42	TF binding region
ENSG00000113569	Chromatin interaction
ENSG00000242493	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic 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	44 gene(s)	inside rSNPs	diseases
8	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
13	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	42 gene(s)	inside rSNPs	diseases
16	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
20	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	esv3358042	chr5:37232244-37251247	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
27	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
28	esv3341332	chr5:37248220-37250768	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
2	chr5:37247200-37249000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:37247200-37249000	Flanking Active TSS	Dnd41	blood
4	chr5:37247400-37249800	Active TSS	GM12878-XiMat	blood
5	chr5:37247400-37250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:37247600-37249200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:37247600-37249800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:37247600-37249800	Active TSS	A549	lung
9	chr5:37247800-37249800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:37247800-37250000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:37248000-37249800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:37248000-37249800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:37248000-37249800	Active TSS	HSMM	muscle
14	chr5:37248200-37248800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:37248200-37248800	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr5:37248200-37249000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr5:37248200-37249800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:37248200-37249800	Active TSS	Hela-S3	cervix
19	chr5:37248200-37249800	Active TSS	NHDF-Ad	bronchial
20	chr5:37248200-37250000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:37248200-37250000	Active TSS	Fetal Brain Female	brain
22	chr5:37248200-37250000	Active TSS	Right Atrium	heart
23	chr5:37248400-37248800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:37248400-37248800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:37248400-37248800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr5:37248400-37248800	Flanking Active TSS	Fetal Brain Male	brain
27	chr5:37248400-37248800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr5:37248400-37248800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr5:37248400-37248800	Flanking Active TSS	Fetal Thymus	thymus
30	chr5:37248400-37248800	Flanking Active TSS	Ovary	ovary
31	chr5:37248400-37248800	Active TSS	HepG2	liver
32	chr5:37248400-37248800	Flanking Active TSS	Osteobl	bone
33	chr5:37248400-37249000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr5:37248400-37249000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:37248400-37249000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:37248400-37249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr5:37248400-37249200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:37248400-37249600	Active TSS	NHEK	skin
39	chr5:37248400-37249800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr5:37248400-37249800	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:37248400-37249800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:37248400-37249800	Active TSS	Brain Hippocampus Middle	brain
43	chr5:37248400-37249800	Active TSS	Fetal Stomach	stomach
44	chr5:37248400-37249800	Active TSS	Right Ventricle	heart
45	chr5:37248400-37249800	Active TSS	HMEC	breast
46	chr5:37248400-37249800	Active TSS	HSMMtube	muscle
47	chr5:37248400-37249800	Active TSS	NHLF	lung
48	chr5:37248400-37250000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:37248400-37250000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr5:37248400-37250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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