Variant report

Variant	rs73750903
Chromosome Location	chr5:36873696-36873697
allele	C/T
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	ARID3A	chr5:36873646-36874913	K562	blood:	n/a	n/a
2	USF1	chr5:36873497-36873700	H1-hESC	embryonic stem cell:	n/a	n/a
3	HCFC1	chr5:36873443-36879373	Hela-S3	cervix:	n/a	n/a
4	FOS	chr5:36873527-36873739	MCF10A-Er-Src	breast:	n/a	chr5:36873567-36873575 chr5:36873566-36873576 chr5:36873567-36873575 chr5:36873568-36873575

No.	Distal block	Cell Line	Cell type
1	chr5:36868967..36871389-chr5:36872462..36873999,2	MCF-7	breast:
2	chr5:36858168..36860650-chr5:36872272..36874447,2	K562	blood:
3	chr5:36747370..36751101-chr5:36873214..36876820,3	K562	blood:
4	chr5:36870958..36873840-chr5:36982182..36984989,2	MCF-7	breast:
5	chr5:36873234..36875731-chr5:36921521..36923722,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-2	chr5:36867686-36876860	NONHSAT101045
2	lnc-C5orf42-2	chr5:36871463-36876796	NONHSAT147328

Variant related genes	Relation type
NIPBL	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs150501	1.00[AMR][1000 genomes]
rs159435	1.00[AMR][1000 genomes]
rs1669445	0.83[AFR][1000 genomes]
rs16903458	0.83[AFR][1000 genomes]
rs192668	0.83[AFR][1000 genomes]
rs192669	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2047593	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs289217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs291113	0.95[AFR][1000 genomes]
rs291115	0.98[AFR][1000 genomes]
rs2914148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2934797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs293755	1.00[AMR][1000 genomes]
rs293756	0.83[AFR][1000 genomes]
rs293776	1.00[AMR][1000 genomes]
rs298969	0.83[AFR][1000 genomes]
rs468906	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs531988	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56745362	0.80[AFR][1000 genomes]
rs57317297	0.80[AFR][1000 genomes]
rs60509887	1.00[AMR][1000 genomes]
rs6891775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750919	1.00[AMR][1000 genomes]
rs73750920	1.00[AMR][1000 genomes]
rs73750925	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36862400-36874000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:36862600-36874800	Weak transcription	Aorta	Aorta
3	chr5:36862800-36873800	Weak transcription	NH-A	brain
4	chr5:36863000-36874800	Weak transcription	Left Ventricle	heart
5	chr5:36864600-36874000	Weak transcription	Fetal Stomach	stomach
6	chr5:36864600-36874000	Weak transcription	Thymus	Thymus
7	chr5:36864800-36874000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:36864800-36874800	Weak transcription	Placenta	Placenta
9	chr5:36866200-36874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:36867400-36875200	Weak transcription	Lung	lung
11	chr5:36868200-36874800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:36868400-36873800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:36868400-36874000	Weak transcription	Fetal Kidney	kidney
14	chr5:36870000-36874600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:36870600-36874000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:36870800-36874000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:36870800-36874600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:36871000-36874000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:36871000-36874000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:36871000-36874200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:36871000-36874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:36871000-36874600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:36871000-36874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:36871200-36873800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:36871200-36874800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:36871400-36874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:36871600-36873800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:36871600-36874400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:36871600-36874800	Weak transcription	Gastric	stomach
30	chr5:36871600-36875200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:36871800-36873800	Weak transcription	Primary T cells from cord blood	blood
32	chr5:36871800-36873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:36872000-36874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:36872000-36874400	Weak transcription	Fetal Thymus	thymus
35	chr5:36872400-36874000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:36872600-36875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:36872800-36874600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:36872800-36881400	Active TSS	GM12878-XiMat	blood
39	chr5:36873000-36874000	Active TSS	Fetal Brain Female	brain
40	chr5:36873000-36874400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:36873000-36874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:36873200-36874200	Enhancers	A549	lung
43	chr5:36873200-36874600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:36873200-36874600	Enhancers	Hela-S3	cervix
45	chr5:36873200-36874600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:36873400-36874000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:36873400-36874000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:36873400-36874000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:36873400-36874000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:36873400-36874000	Enhancers	HUVEC	blood vessel

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