Variant report

Variant	rs28567474
Chromosome Location	chr14:31095542-31095543
allele	C/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	chr14:31095479-31096005	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:31095506-31096255	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
2	chr14:31092884..31094625-chr14:31094770..31097263,2	MCF-7	breast:
3	chr14:31041060..31043251-chr14:31093462..31096063,2	MCF-7	breast:

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000100473	Chromatin interaction
ENSG00000257636	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10131166	0.95[ASN][1000 genomes]
rs10136727	0.88[EUR][1000 genomes]
rs10141944	0.95[ASN][1000 genomes]
rs10146357	0.98[ASN][1000 genomes]
rs10147257	0.99[ASN][1000 genomes]
rs10149966	1.00[ASN][1000 genomes]
rs11156637	0.91[ASN][1000 genomes]
rs1123860	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11622076	0.96[ASN][1000 genomes]
rs11623154	0.95[ASN][1000 genomes]
rs11626600	0.85[EUR][1000 genomes]
rs11627421	0.86[ASN][1000 genomes]
rs11628700	0.99[ASN][1000 genomes]
rs11846293	0.89[ASN][1000 genomes]
rs11846408	0.91[ASN][1000 genomes]
rs11851205	0.96[ASN][1000 genomes]
rs12586678	0.91[ASN][1000 genomes]
rs12881161	0.84[EUR][1000 genomes]
rs12882048	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12882931	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12894186	0.82[AMR][1000 genomes]
rs17096941	0.86[AMR][1000 genomes]
rs17097023	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2057284	1.00[ASN][1000 genomes]
rs2070340	0.91[ASN][1000 genomes]
rs2273520	0.98[ASN][1000 genomes]
rs2273521	0.98[ASN][1000 genomes]
rs2273522	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs229175	0.89[EUR][1000 genomes]
rs229244	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2378780	0.92[EUR][1000 genomes]
rs34935871	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35069045	0.87[ASN][1000 genomes]
rs4430662	0.91[ASN][1000 genomes]
rs447853	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6571356	0.96[ASN][1000 genomes]
rs6571357	0.95[ASN][1000 genomes]
rs7141333	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141624	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7149113	0.98[ASN][1000 genomes]
rs7493549	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8008094	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8013017	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8015536	0.89[EUR][1000 genomes]
rs8018993	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8019637	0.96[ASN][1000 genomes]
rs8020220	0.84[EUR][1000 genomes]
rs9322864	0.82[EUR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr14:31092200-31100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:31092200-31104000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
6	chr14:31092400-31095600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:31092400-31096000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:31092400-31096200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:31092400-31096600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:31092400-31099600	Weak transcription	Placenta	Placenta
11	chr14:31092400-31099800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:31092400-31100200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:31092600-31096200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr14:31092600-31100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:31092800-31096000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:31092800-31099600	Weak transcription	HSMM	muscle
18	chr14:31092800-31100000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:31092800-31102000	Weak transcription	Psoas Muscle	Psoas
20	chr14:31092800-31113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:31093000-31098200	Weak transcription	A549	lung
23	chr14:31093200-31100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:31093400-31096000	Enhancers	Duodenum Mucosa	Duodenum
25	chr14:31093400-31096000	Enhancers	Fetal Brain Female	brain
26	chr14:31093400-31098800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:31093400-31100200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:31093400-31103800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:31093400-31103800	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:31093600-31095600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:31093600-31095600	Weak transcription	Fetal Stomach	stomach
32	chr14:31093600-31096000	Strong transcription	NHLF	lung
33	chr14:31093600-31096200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:31093600-31097000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:31093600-31098400	Weak transcription	HMEC	breast
36	chr14:31093600-31099600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:31093600-31099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:31093600-31099800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:31093600-31100000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:31093600-31100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:31093600-31100600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:31093600-31101800	Weak transcription	HUVEC	blood vessel
43	chr14:31093600-31102000	Weak transcription	Fetal Kidney	kidney
44	chr14:31093600-31103800	Weak transcription	Brain Germinal Matrix	brain
45	chr14:31093600-31103800	Weak transcription	Fetal Lung	lung
46	chr14:31093600-31107200	Weak transcription	Right Ventricle	heart
47	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:31093800-31096400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:31093800-31098400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:31093800-31099800	Weak transcription	Rectal Mucosa Donor 29	rectum

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