Variant report

Variant	rs4670892
Chromosome Location	chr2:38982036-38982037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38975148..38982473-chr2:39000165..39007764,21	K562	blood:
2	chr2:38980271..38983195-chr2:38988921..38991743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227238	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10197412	0.90[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10865143	0.84[ASN][1000 genomes]
rs11124646	0.84[EUR][1000 genomes]
rs12472454	0.88[ASN][1000 genomes]
rs12474770	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618118	0.83[ASN][1000 genomes]
rs12621103	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12991609	0.86[ASN][1000 genomes]
rs13024811	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037875	0.90[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3097713	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs3099952	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099960	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3099961	0.85[ASN][1000 genomes]
rs3099965	0.82[ASN][1000 genomes]
rs3099968	0.81[ASN][1000 genomes]
rs3099971	0.88[ASN][1000 genomes]
rs3112178	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs3112183	0.85[JPT][hapmap];0.80[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112184	0.88[ASN][1000 genomes]
rs3112186	0.88[ASN][1000 genomes]
rs3112188	0.88[ASN][1000 genomes]
rs3112189	0.88[ASN][1000 genomes]
rs3112191	0.88[ASN][1000 genomes]
rs3112192	0.88[ASN][1000 genomes]
rs3112194	0.84[ASN][1000 genomes]
rs3112196	0.85[ASN][1000 genomes]
rs3112198	0.87[ASN][1000 genomes]
rs3112204	0.85[ASN][1000 genomes]
rs3112209	0.82[EUR][1000 genomes]
rs3112215	0.82[EUR][1000 genomes]
rs3134628	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134629	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134630	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134637	0.86[ASN][1000 genomes]
rs35387882	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731838	0.90[CHB][hapmap]
rs4670894	0.86[EUR][1000 genomes]
rs6715866	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs6746818	0.83[CHB][hapmap]

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS 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 miRNA target site	111 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4670892	SFRS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979200-38983800	Weak transcription	HSMM	muscle
2	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:38980800-38982400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:38981200-38982200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:38981400-38982200	Active TSS	Ovary	ovary
6	chr2:38981400-38982200	Active TSS	Right Atrium	heart
7	chr2:38981600-38982200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr2:38981600-38982200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr2:38981600-38982200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:38981600-38982200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:38981600-38982200	Active TSS	Liver	Liver
12	chr2:38981600-38982200	Weak transcription	Stomach Mucosa	stomach
13	chr2:38981600-38982200	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:38981600-38982400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:38981600-38982400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:38981600-38982400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:38981800-38982200	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr2:38981800-38982200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:38981800-38982200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:38982000-38982200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr2:38982000-38982200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:38982000-38982200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:38982000-38982200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:38982000-38982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:38982000-38982200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:38982000-38982400	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:38982000-38982400	Enhancers	Dnd41	blood
28	chr2:38982000-38986200	Weak transcription	HepG2	liver

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