Variant report

Variant	rs13128671
Chromosome Location	chr4:57805659-57805660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57803794..57806206-chr4:57808007..57809597,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11726410	0.92[ASN][1000 genomes]
rs11726443	0.92[ASN][1000 genomes]
rs11727329	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11732394	0.85[ASN][1000 genomes]
rs13113032	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13123018	1.00[ASN][1000 genomes]
rs13125082	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13130600	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13130604	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146090	0.86[CEU][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13152711	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17087358	0.85[ASN][1000 genomes]
rs2412761	0.92[ASN][1000 genomes]
rs34308849	0.83[ASN][1000 genomes]
rs34840470	0.83[ASN][1000 genomes]
rs34937594	0.83[ASN][1000 genomes]
rs35185186	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318869	0.83[ASN][1000 genomes]
rs4413466	0.92[ASN][1000 genomes]
rs4443350	0.92[ASN][1000 genomes]
rs4865166	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56143151	0.92[ASN][1000 genomes]
rs62308099	0.83[ASN][1000 genomes]
rs62308100	0.83[ASN][1000 genomes]
rs62308107	0.83[ASN][1000 genomes]
rs62308153	0.92[ASN][1000 genomes]
rs62310292	0.85[ASN][1000 genomes]
rs66619445	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839166	0.92[ASN][1000 genomes]
rs7684642	0.83[ASN][1000 genomes]
rs7685053	0.83[ASN][1000 genomes]
rs7685791	0.85[ASN][1000 genomes]
rs9055	0.87[CEU][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9760540	0.92[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13128671	RP11-738E22.3	cis	Esophagus Mucosa	GTEx
rs13128671	RP11-738E22.3	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:57797600-57807000	Weak transcription	Gastric	stomach
6	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
7	chr4:57798000-57805800	Weak transcription	Fetal Brain Female	brain
8	chr4:57798000-57806000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:57798000-57806400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:57798200-57809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:57798200-57811800	Weak transcription	Esophagus	oesophagus
14	chr4:57798200-57828400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
16	chr4:57798400-57805800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:57798400-57806000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:57798400-57806400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:57798400-57808200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:57798400-57810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:57798400-57811800	Weak transcription	Fetal Kidney	kidney
22	chr4:57798400-57814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:57798400-57828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:57798600-57828200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:57799400-57808600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:57799800-57805800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:57799800-57807400	Weak transcription	Small Intestine	intestine
28	chr4:57799800-57809000	Weak transcription	HepG2	liver
29	chr4:57800000-57807200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:57800200-57811000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:57800400-57809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:57801600-57806000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:57801800-57808600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:57802200-57806000	Strong transcription	Fetal Intestine Small	intestine
35	chr4:57802200-57807000	Strong transcription	Fetal Stomach	stomach
36	chr4:57802400-57806000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:57802400-57806000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:57802400-57806800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:57802600-57805800	Strong transcription	Placenta	Placenta
40	chr4:57802600-57806000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:57802600-57806000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:57802600-57806200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:57802600-57806200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:57802800-57806000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:57802800-57806000	Strong transcription	Thymus	Thymus
46	chr4:57803200-57806000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:57803200-57806200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:57803600-57806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:57803800-57805800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:57803800-57806000	Weak transcription	Hela-S3	cervix

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