Variant report

Variant	rs2207192
Chromosome Location	chr1:171453707-171453708
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	HCFC1	chr1:171453657-171455874	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:171453344-171453816	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:171453293-171456326	GM12878	blood:	n/a	n/a
4	CTCF	chr1:171453365-171456367	A549	lung:	n/a	chr1:171454518-171454536
5	CTCF	chr1:171453640-171453790	GM12869	blood:	n/a	n/a
6	POLR2A	chr1:171453654-171456406	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171449334..171452754-chr1:171452810..171456877,5	K562	blood:
2	chr1:171387474..171389314-chr1:171452671..171455451,2	MCF-7	breast:
3	chr1:171453211..171456610-chr1:171708836..171712780,4	K562	blood:
4	chr1:171453426..171457241-chr1:171461305..171463614,3	MCF-7	breast:

Variant related genes	Relation type
PRRC2C	TF binding region
ENSG00000238859	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000239373	Chromatin interaction
ENSG00000202082	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10753138	0.86[ASN][1000 genomes]
rs10913136	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10913165	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11587602	0.80[AMR][1000 genomes]
rs11589384	0.91[ASN][1000 genomes]
rs12078309	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12079162	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2272810	0.90[ASN][1000 genomes]
rs28831777	0.89[ASN][1000 genomes]
rs3736679	0.92[ASN][1000 genomes]
rs3817772	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4916387	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61814748	0.82[ASN][1000 genomes]
rs6703132	0.82[ASN][1000 genomes]
rs7536723	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171447400-171453800	Weak transcription	K562	blood
2	chr1:171449600-171453800	Weak transcription	Fetal Kidney	kidney
3	chr1:171449600-171454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:171449600-171454000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:171449600-171454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:171449800-171454000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:171452200-171454000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:171452400-171454000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:171452400-171454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:171452400-171454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:171452400-171454200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:171453000-171454000	Enhancers	Placenta	Placenta
13	chr1:171453200-171453800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:171453200-171453800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:171453200-171453800	Enhancers	Psoas Muscle	Psoas
16	chr1:171453200-171455800	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:171453400-171453800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:171453400-171453800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:171453400-171453800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:171453400-171453800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:171453400-171453800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:171453400-171453800	Enhancers	Liver	Liver
23	chr1:171453400-171453800	Enhancers	Fetal Thymus	thymus
24	chr1:171453400-171453800	Flanking Active TSS	HMEC	breast
25	chr1:171453400-171453800	Enhancers	HSMMtube	muscle
26	chr1:171453400-171454000	Flanking Active TSS	Dnd41	blood
27	chr1:171453600-171453800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:171453600-171453800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:171453600-171453800	Enhancers	Primary T cells from cord blood	blood
30	chr1:171453600-171453800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:171453600-171453800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:171453600-171453800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:171453600-171453800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:171453600-171453800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:171453600-171453800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:171453600-171453800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:171453600-171453800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:171453600-171453800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:171453600-171453800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:171453600-171453800	Enhancers	Brain Angular Gyrus	brain
41	chr1:171453600-171453800	Enhancers	Brain Hippocampus Middle	brain
42	chr1:171453600-171453800	Active TSS	Brain Substantia Nigra	brain
43	chr1:171453600-171453800	Enhancers	Colon Smooth Muscle	Colon
44	chr1:171453600-171453800	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:171453600-171453800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:171453600-171453800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:171453600-171453800	Active TSS	Hela-S3	cervix
48	chr1:171453600-171453800	Enhancers	HepG2	liver
49	chr1:171453600-171453800	Enhancers	NH-A	brain
50	chr1:171453600-171453800	Enhancers	NHEK	skin

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