Variant report

Variant	rs7194347
Chromosome Location	chr16:30645644-30645645
allele	A/C/T
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:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30553103..30555783-chr16:30644118..30646761,2	MCF-7	breast:
2	chr16:30644216..30645999-chr4:124507592..124509097,2	MCF-7	breast:
3	chr16:30440409..30443527-chr16:30644218..30646221,3	K562	blood:
4	chr16:30639009..30641962-chr16:30644620..30646873,2	MCF-7	breast:
5	chr16:30645247..30645934-chr17:80477054..80477586,2	Hela-S3	cervix:
6	chr16:30446409..30448380-chr16:30645519..30647162,2	MCF-7	breast:
7	chr16:30637395..30641819-chr16:30644073..30647444,4	MCF-7	breast:
8	chr16:30640142..30641957-chr16:30643713..30645899,3	K562	blood:
9	chr16:30645560..30646171-chr16:30669716..30670273,2	MCF-7	breast:
10	chr16:30425764..30431777-chr16:30643606..30648792,10	MCF-7	breast:
11	chr16:30405528..30407554-chr16:30645343..30647105,2	MCF-7	breast:
12	chr16:30536523..30540644-chr16:30645221..30648194,5	MCF-7	breast:
13	chr16:30645462..30646269-chr2:113402996..113403967,2	Hela-S3	cervix:
14	chr16:30455807..30458356-chr16:30645639..30647441,2	K562	blood:
15	chr16:30437361..30442565-chr16:30644593..30648400,5	MCF-7	breast:
16	chr15:44719676..44720384-chr16:30645630..30646279,2	Hela-S3	cervix:
17	chr16:30440125..30441909-chr16:30644218..30647208,2	K562	blood:
18	chr16:30645231..30645804-chr5:38968601..38969101,2	Hela-S3	cervix:
19	chr16:30645223..30645913-chr5:134094149..134094928,2	Hela-S3	cervix:
20	chr16:30611646..30614130-chr16:30645104..30647330,2	K562	blood:
21	chr16:30456814..30458698-chr16:30645372..30647261,2	MCF-7	breast:
22	chr16:30619502..30621875-chr16:30644431..30647056,2	K562	blood:
23	chr16:30643696..30645887-chr16:30676156..30678623,2	MCF-7	breast:
24	chr16:30388120..30390013-chr16:30644572..30647101,3	K562	blood:
25	chr16:30417175..30420189-chr16:30644712..30648071,3	MCF-7	breast:
26	chr16:30408965..30411877-chr16:30643615..30646400,2	MCF-7	breast:
27	chr16:30627523..30629109-chr16:30644539..30647168,2	MCF-7	breast:
28	chr16:30439875..30443880-chr16:30644269..30648773,5	MCF-7	breast:
29	chr16:30644455..30647507-chr16:30709405..30711853,4	MCF-7	breast:
30	chr16:30645018..30647863-chr17:56736329..56737954,2	MCF-7	breast:
31	chr16:30643767..30647614-chr16:30667017..30672688,11	MCF-7	breast:
32	chr16:30645590..30646206-chr6:27859952..27860902,2	Hela-S3	cervix:
33	chr16:30644081..30647716-chr16:30660195..30665578,9	MCF-7	breast:
34	chr16:30645535..30646046-chr5:43483024..43483856,2	Hela-S3	cervix:
35	chr16:30580526..30584022-chr16:30644027..30647188,4	MCF-7	breast:
36	chr16:30567925..30573022-chr16:30645244..30647249,4	MCF-7	breast:
37	chr16:30594953..30598897-chr16:30644540..30647635,4	MCF-7	breast:
38	chr16:30645016..30649381-chr16:30667944..30672183,8	MCF-7	breast:
39	chr16:30594602..30599221-chr16:30645132..30650024,7	K562	blood:
40	chr16:30429524..30432595-chr16:30644365..30647909,3	MCF-7	breast:
41	chr16:30388287..30390366-chr16:30644424..30646542,2	MCF-7	breast:
42	chr16:30448830..30450569-chr16:30645154..30647301,2	MCF-7	breast:
43	chr16:30456013..30458014-chr16:30645253..30646868,2	K562	blood:
44	chr16:30645441..30645968-chr3:129034692..129035343,2	Hela-S3	cervix:
45	chr16:30625207..30628170-chr16:30644709..30647482,2	MCF-7	breast:
46	chr16:30535592..30540399-chr16:30644319..30649503,5	K562	blood:
47	chr16:30620535..30622152-chr16:30645217..30647880,3	MCF-7	breast:
48	chr16:30644135..30648252-chr16:30660557..30664970,6	K562	blood:
49	chr16:30644633..30647330-chr16:30647891..30651993,5	MCF-7	breast:
50	chr16:30595417..30597147-chr16:30644762..30647524,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156858	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000145833	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000260678	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000180182	Chromatin interaction
ENSG00000137770	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000184897	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000244586	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000155666	Chromatin interaction
ENSG00000260113	Chromatin interaction
ENSG00000133657	Chromatin interaction
ENSG00000180096	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12918327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1348039	0.81[YRI][hapmap]
rs1470129	0.82[YRI][hapmap]
rs1530201	0.81[YRI][hapmap]
rs28728333	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28841118	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919428	0.91[YRI][hapmap]
rs34699226	0.91[ASN][1000 genomes]
rs35661204	0.85[ASN][1000 genomes]
rs36063822	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs36064568	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4485386	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889502	0.81[YRI][hapmap]
rs4889506	0.81[YRI][hapmap]
rs55875685	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6565195	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565196	0.87[EUR][1000 genomes]
rs67693285	1.00[ASN][1000 genomes]
rs7184055	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7185620	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186852	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187802	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7188789	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7188927	0.81[YRI][hapmap]
rs7191389	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191761	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204632	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7499339	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs893924	0.81[YRI][hapmap]
rs893925	0.81[YRI][hapmap]
rs9925025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927137	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30644800-30646800	Active TSS	HSMM	muscle
2	chr16:30644800-30647000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:30644800-30647000	Active TSS	Fetal Brain Female	brain
4	chr16:30645000-30646000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:30645000-30646000	Active TSS	Duodenum Mucosa	Duodenum
6	chr16:30645000-30646000	Active TSS	Left Ventricle	heart
7	chr16:30645000-30646000	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr16:30645000-30646200	Active TSS	Brain Hippocampus Middle	brain
9	chr16:30645000-30646200	Active TSS	Stomach Smooth Muscle	stomach
10	chr16:30645000-30646200	Active TSS	Spleen	Spleen
11	chr16:30645000-30646400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr16:30645000-30646400	Flanking Active TSS	Fetal Thymus	thymus
13	chr16:30645000-30646600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr16:30645000-30646600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:30645000-30646600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:30645000-30646600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:30645000-30646600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:30645000-30646600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:30645000-30646600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:30645000-30646600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr16:30645000-30646600	Active TSS	Brain Angular Gyrus	brain
22	chr16:30645000-30646600	Active TSS	Brain Cingulate Gyrus	brain
23	chr16:30645000-30646600	Active TSS	Brain Germinal Matrix	brain
24	chr16:30645000-30646600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr16:30645000-30646600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:30645000-30646600	Active TSS	Fetal Intestine Large	intestine
27	chr16:30645000-30646600	Active TSS	Psoas Muscle	Psoas
28	chr16:30645000-30646600	Active TSS	Rectal Smooth Muscle	rectum
29	chr16:30645000-30646600	Active TSS	Right Atrium	heart
30	chr16:30645000-30646600	Active TSS	A549	lung
31	chr16:30645000-30646600	Active TSS	K562	blood
32	chr16:30645000-30646600	Active TSS	NHEK	skin
33	chr16:30645000-30646600	Active TSS	NHLF	lung
34	chr16:30645000-30646800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:30645000-30646800	Active TSS	Fetal Kidney	kidney
36	chr16:30645000-30646800	Active TSS	Right Ventricle	heart
37	chr16:30645000-30647000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:30645000-30647000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:30645000-30647000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:30645000-30647000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr16:30645000-30647000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr16:30645000-30647000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr16:30645000-30647000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:30645000-30647000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:30645200-30645800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:30645200-30646000	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr16:30645200-30646000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr16:30645200-30646000	Active TSS	Liver	Liver
49	chr16:30645200-30646000	Active TSS	Fetal Intestine Small	intestine
50	chr16:30645200-30646000	Active TSS	Pancreas	Pancrea

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