Variant report

Variant	rs35933304
Chromosome Location	chr12:121727615-121727616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121721312..121723711-chr12:121725911..121728567,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11610335	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11611253	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11614587	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616052	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12809685	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12813237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12821054	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34097145	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34301487	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34606348	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35252229	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35312287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35481664	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35583078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35718230	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35882228	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs36122756	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:121707400-121733200	Weak transcription	HSMM	muscle
5	chr12:121708800-121730200	Weak transcription	HepG2	liver
6	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
7	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
8	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
14	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:121713000-121728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:121715200-121730200	Weak transcription	A549	lung
18	chr12:121715400-121731400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:121715600-121733000	Weak transcription	NHEK	skin
21	chr12:121717000-121732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:121717400-121730200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:121717600-121727800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:121717600-121728600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:121717600-121733000	Weak transcription	Esophagus	oesophagus
26	chr12:121717600-121733000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:121717800-121727800	Weak transcription	Fetal Brain Female	brain
28	chr12:121717800-121731400	Weak transcription	HMEC	breast
29	chr12:121717800-121733200	Weak transcription	NH-A	brain
30	chr12:121718000-121733000	Weak transcription	Brain Substantia Nigra	brain
31	chr12:121720200-121732200	Weak transcription	Small Intestine	intestine
32	chr12:121720200-121733200	Weak transcription	Colonic Mucosa	Colon
33	chr12:121720600-121731200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:121721600-121728400	Weak transcription	Brain Germinal Matrix	brain
35	chr12:121722000-121730200	Weak transcription	Dnd41	blood
36	chr12:121722000-121732800	Weak transcription	K562	blood
37	chr12:121722600-121727800	Weak transcription	Left Ventricle	heart
38	chr12:121722800-121729400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:121722800-121733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:121723000-121728400	Weak transcription	Liver	Liver
41	chr12:121723000-121732200	Weak transcription	HUVEC	blood vessel
42	chr12:121723600-121733000	Weak transcription	Pancreas	Pancrea
43	chr12:121724000-121727800	Weak transcription	Primary T cells from cord blood	blood
44	chr12:121724000-121728400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:121724200-121727800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:121724400-121729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:121725400-121727800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:121725600-121733000	Weak transcription	NHLF	lung
49	chr12:121726000-121728000	Enhancers	Right Atrium	heart
50	chr12:121726000-121728200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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