Variant report

Variant	rs2994368
Chromosome Location	chr9:96376900-96376901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
2	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
3	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046907	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10119832	0.81[ASN][1000 genomes]
rs10122014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10512224	0.82[JPT][hapmap]
rs10512226	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10739952	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13286188	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs1331588	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs16909211	1.00[CHB][hapmap]
rs2250236	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250344	0.81[YRI][hapmap]
rs2254715	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2265573	0.85[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2274851	0.81[ASN][1000 genomes]
rs2989751	0.81[YRI][hapmap]
rs2994366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3897285	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4146138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4744257	0.84[YRI][hapmap]
rs55934002	0.89[ASN][1000 genomes]
rs58782393	0.81[ASN][1000 genomes]
rs62573992	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020195	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7033849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7038564	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7044283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73651271	0.81[ASN][1000 genomes]
rs7857165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7869286	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7874126	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs914417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9299409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040891	chr9:96361529-96397338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1044461	chr9:96362048-96397338	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1055035	chr9:96372269-96402747	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3408240	chr9:96375131-96379629	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3440136	chr9:96375831-96378729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
3	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
9	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:96373000-96377200	Enhancers	Psoas Muscle	Psoas
11	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:96373400-96377000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
15	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
16	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
18	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
19	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
20	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:96374400-96377000	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:96374600-96377000	Weak transcription	Fetal Kidney	kidney
23	chr9:96374600-96378000	Enhancers	Spleen	Spleen
24	chr9:96374600-96378200	Enhancers	Gastric	stomach
25	chr9:96374600-96399800	Weak transcription	K562	blood
26	chr9:96374800-96379400	Weak transcription	Small Intestine	intestine
27	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:96375000-96382400	Weak transcription	Liver	Liver
30	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
31	chr9:96375200-96379200	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:96375200-96379400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr9:96375200-96379600	Weak transcription	Thymus	Thymus
34	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
36	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
38	chr9:96375400-96377000	Strong transcription	Fetal Stomach	stomach
39	chr9:96375400-96379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:96375400-96379400	Weak transcription	Adipose Nuclei	Adipose
41	chr9:96375400-96379400	Weak transcription	Brain Substantia Nigra	brain
42	chr9:96375400-96380400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:96375600-96377000	Strong transcription	Fetal Muscle Leg	muscle
45	chr9:96375600-96379400	Weak transcription	Aorta	Aorta
46	chr9:96375600-96379400	Weak transcription	Placenta	Placenta
47	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
50	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum

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