Variant report

Variant	rs12027644
Chromosome Location	chr1:74671994-74671995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74670579..74674137-chr1:74674462..74677110,4	K562	blood:
2	chr1:74662984..74666783-chr1:74668983..74674031,7	K562	blood:

Variant related genes	Relation type
ENSG00000259030	Chromatin interaction
ENSG00000116783	Chromatin interaction
ENSG00000254685	Chromatin interaction
ENSG00000162620	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12022350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12027559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1013244	chr1:74441655-74680703	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv535001	chr1:74441655-74680703	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv871269	chr1:74484753-74709362	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv871381	chr1:74484753-74712181	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv871084	chr1:74492200-74681968	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv871456	chr1:74492200-74712181	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1008285	chr1:74517953-74705457	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv871630	chr1:74578318-74709362	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv871909	chr1:74594901-74703758	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv428785	chr1:74640545-74818577	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv870486	chr1:74654182-74804833	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74664200-74672000	Weak transcription	Lung	lung
2	chr1:74664200-74672000	Weak transcription	Spleen	Spleen
3	chr1:74664200-74675200	Weak transcription	Pancreas	Pancrea
4	chr1:74664800-74672000	Weak transcription	Fetal Thymus	thymus
5	chr1:74664800-74673600	Weak transcription	NH-A	brain
6	chr1:74664800-74674000	Weak transcription	Fetal Kidney	kidney
7	chr1:74664800-74674600	Weak transcription	HSMMtube	muscle
8	chr1:74664800-74676000	Weak transcription	HSMM	muscle
9	chr1:74664800-74680400	Weak transcription	Fetal Brain Female	brain
10	chr1:74664800-74688200	Weak transcription	Psoas Muscle	Psoas
11	chr1:74665000-74672000	Weak transcription	HMEC	breast
12	chr1:74665000-74672200	Weak transcription	Colonic Mucosa	Colon
13	chr1:74665000-74672200	Weak transcription	HUVEC	blood vessel
14	chr1:74665000-74672600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:74665000-74673000	Weak transcription	Aorta	Aorta
16	chr1:74665000-74675000	Weak transcription	Osteobl	bone
17	chr1:74665000-74675600	Weak transcription	A549	lung
18	chr1:74665000-74677000	Weak transcription	Right Ventricle	heart
19	chr1:74665000-74690200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:74665200-74672600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:74665400-74672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:74665400-74675000	Weak transcription	NHDF-Ad	bronchial
23	chr1:74665400-74675200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:74665400-74677200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:74665600-74672600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:74665600-74672600	Weak transcription	Dnd41	blood
27	chr1:74665600-74673400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:74665600-74674400	Weak transcription	Fetal Brain Male	brain
29	chr1:74665600-74677400	Weak transcription	Brain Anterior Caudate	brain
30	chr1:74665600-74680000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:74665600-74689200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:74665800-74674000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:74665800-74674600	Weak transcription	K562	blood
34	chr1:74666000-74672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:74666000-74675200	Weak transcription	Primary T cells from cord blood	blood
36	chr1:74666200-74673400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:74666400-74674000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:74669600-74672000	Strong transcription	Fetal Lung	lung
39	chr1:74669600-74672600	Strong transcription	Liver	Liver
40	chr1:74669600-74672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:74669800-74674400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:74670200-74672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:74670400-74674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:74670600-74672800	Weak transcription	NHLF	lung
45	chr1:74670600-74675600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:74670800-74672400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:74670800-74673000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:74670800-74675200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:74671000-74672200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:74671000-74672600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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