Variant report

Variant	rs6712466
Chromosome Location	chr2:233944485-233944486
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	chr2:233939365..233942307-chr2:233943913..233949317,5	K562	blood:
2	chr2:233938376..233942307-chr2:233943562..233948106,4	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11901943	1.00[EUR][1000 genomes]
rs28631381	1.00[AMR][1000 genomes]
rs57218566	1.00[EUR][1000 genomes]
rs58480585	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61351720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437087	1.00[EUR][1000 genomes]
rs6708294	1.00[EUR][1000 genomes]
rs73094939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094946	1.00[EUR][1000 genomes]
rs73094949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094987	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73101521	1.00[EUR][1000 genomes]
rs73101525	1.00[EUR][1000 genomes]
rs73102744	1.00[AMR][1000 genomes]
rs73107107	1.00[AMR][1000 genomes]
rs73107126	1.00[EUR][1000 genomes]
rs73108362	1.00[AMR][1000 genomes]
rs9917365	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233937600-233946400	Genic enhancers	Primary hematopoietic stem cells	blood
2	chr2:233940400-233945600	Weak transcription	HepG2	liver
3	chr2:233940600-233945400	Weak transcription	Colonic Mucosa	Colon
4	chr2:233940600-233948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:233941000-233947600	Weak transcription	Right Atrium	heart
6	chr2:233941000-233947800	Weak transcription	Esophagus	oesophagus
7	chr2:233941200-233945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:233941200-233947600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:233941200-233948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:233941600-233945200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:233941800-233945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:233941800-233945600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:233941800-233945800	Genic enhancers	Primary B cells from cord blood	blood
14	chr2:233941800-233947800	Weak transcription	HSMM	muscle
15	chr2:233942000-233947400	Weak transcription	HUVEC	blood vessel
16	chr2:233942600-233947000	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:233942600-233947000	Genic enhancers	Spleen	Spleen
18	chr2:233942600-233948200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:233942600-233948800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:233942800-233944800	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:233942800-233945800	Weak transcription	Pancreas	Pancrea
22	chr2:233943000-233951400	Genic enhancers	Fetal Thymus	thymus
23	chr2:233943200-233945200	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:233943400-233944600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr2:233943600-233944600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:233943600-233944600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:233943600-233944600	Enhancers	Fetal Muscle Leg	muscle
28	chr2:233943600-233944600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr2:233943600-233946200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr2:233943800-233944600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
31	chr2:233943800-233944600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:233943800-233944600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:233943800-233944600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:233943800-233944600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:233943800-233944600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:233943800-233944600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:233943800-233944600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:233943800-233944800	Enhancers	Brain Hippocampus Middle	brain
39	chr2:233943800-233945000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:233943800-233945000	Enhancers	Thymus	Thymus
41	chr2:233943800-233945600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:233943800-233946600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:233943800-233950800	Enhancers	Placenta	Placenta
44	chr2:233944000-233944600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
45	chr2:233944200-233944600	Genic enhancers	Lung	lung
46	chr2:233944200-233944800	Enhancers	Brain Anterior Caudate	brain
47	chr2:233944200-233947000	Genic enhancers	Dnd41	blood
48	chr2:233944400-233944600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:233944400-233944800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:233944400-233945000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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