Variant report

Variant	rs2991376
Chromosome Location	chr9:96088129-96088130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96085908..96088966-chr9:96204893..96207698,3	MCF-7	breast:
2	chr9:96087711..96090467-chr9:96211671..96213494,2	K562	blood:
3	chr9:96087454..96089386-chr9:96212298..96215366,4	MCF-7	breast:
4	chr9:96079198..96081765-chr9:96083546..96088659,5	MCF-7	breast:
5	chr9:96087344..96090243-chr9:96221738..96224312,2	MCF-7	breast:
6	chr9:96083217..96085199-chr9:96086274..96088449,2	MCF-7	breast:
7	chr9:96087091..96088640-chr9:96092305..96094945,2	MCF-7	breast:
8	chr9:96082960..96085934-chr9:96086076..96089070,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNK2-1	chr9:96087730-96089336	NONHSAT133247

No data

Variant related genes	Relation type
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10739946	0.82[EUR][1000 genomes]
rs10761208	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1111776	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs12683662	0.85[AFR][1000 genomes]
rs12684392	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1889338	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs1891970	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1931369	0.91[AMR][1000 genomes]
rs1931372	1.00[AMR][1000 genomes]
rs2151714	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs2169756	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs2494781	0.82[EUR][1000 genomes]
rs28421070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2991380	0.82[EUR][1000 genomes]
rs2991383	0.86[EUR][1000 genomes]
rs2995993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2995994	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2995999	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3001449	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3001453	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4469524	0.91[AMR][1000 genomes]
rs4548243	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs4743913	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4743914	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4743917	0.85[AMR][1000 genomes]
rs4744214	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4744229	1.00[AMR][1000 genomes]
rs6479473	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6479480	0.91[AMR][1000 genomes]
rs7020195	1.00[CEU][hapmap]
rs7025514	0.92[YRI][hapmap]
rs7025611	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7027660	0.80[AFR][1000 genomes]
rs7031917	0.94[YRI][hapmap]
rs7042492	1.00[YRI][hapmap]
rs7044229	0.92[AFR][1000 genomes]
rs7853075	0.92[YRI][hapmap]
rs7866298	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7872608	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs999326	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
2	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:96074000-96088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:96076200-96088400	Weak transcription	A549	lung
5	chr9:96079200-96088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:96079600-96094400	Weak transcription	Stomach Mucosa	stomach
7	chr9:96080400-96090400	Weak transcription	Gastric	stomach
8	chr9:96081000-96100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:96082600-96088200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:96083200-96100400	Weak transcription	Fetal Stomach	stomach
11	chr9:96083400-96094400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:96083800-96088400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:96083800-96088400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:96083800-96088400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:96083800-96088400	Weak transcription	Fetal Heart	heart
16	chr9:96083800-96090400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:96083800-96090800	Weak transcription	Brain Germinal Matrix	brain
18	chr9:96083800-96094400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:96084600-96092400	Weak transcription	Fetal Intestine Small	intestine
20	chr9:96087000-96093400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:96087200-96089400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:96087400-96088200	Enhancers	Fetal Muscle Leg	muscle
23	chr9:96087400-96089000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:96087600-96088600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:96087800-96088800	Flanking Active TSS	HepG2	liver
26	chr9:96087800-96089200	Strong transcription	Fetal Brain Female	brain
27	chr9:96088000-96088200	Enhancers	Left Ventricle	heart
28	chr9:96088000-96088200	Enhancers	Right Ventricle	heart
29	chr9:96088000-96088200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:96088000-96088600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:96088000-96089000	Enhancers	Rectal Mucosa Donor 31	rectum

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