Variant report

Variant	rs1907115
Chromosome Location	chr4:143197597-143197598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11100745	0.81[JPT][hapmap]
rs1219274	0.92[CHD][hapmap]
rs13109869	0.83[CHD][hapmap]
rs13120882	0.81[JPT][hapmap]
rs17015855	1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.82[MKK][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17015870	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2130687	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs2200997	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291337	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627801	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs3775669	0.88[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3775679	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775688	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3822146	0.81[JPT][hapmap]
rs60678479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67815203	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72722473	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72722479	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73850832	0.95[ASN][1000 genomes]
rs73850834	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
3	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:143187400-143199400	Weak transcription	NH-A	brain
6	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:143192000-143219400	Weak transcription	Dnd41	blood
12	chr4:143192200-143198800	Weak transcription	Primary T cells from cord blood	blood
13	chr4:143192200-143203800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:143192800-143199000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:143193600-143197800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:143194000-143200200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:143195000-143199000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:143195200-143199200	Weak transcription	HSMM	muscle
20	chr4:143195800-143198000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:143196000-143198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:143196000-143199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
24	chr4:143196200-143198600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:143196200-143199600	Weak transcription	HSMMtube	muscle
26	chr4:143196200-143203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:143196600-143197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:143196600-143199000	Weak transcription	HMEC	breast
29	chr4:143196600-143199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:143196600-143199400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:143196800-143203200	Weak transcription	A549	lung
32	chr4:143197200-143197600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:143197200-143198800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:143197400-143197600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:143197400-143199000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:143197400-143199200	Weak transcription	NHEK	skin
37	chr4:143197400-143202200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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