Variant report

Variant	rs534970991
Chromosome Location	chr2:128373294-128373295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:128373220-128373370	AG10803	skin:	n/a	n/a
2	FOXA1	chr2:128373131-128373353	T-47D	breast:	n/a	n/a
3	POLR2A	chr2:128373036-128373911	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128371727..128374321-chr2:128457294..128459838,2	K562	blood:
2	chr2:128370249..128372116-chr2:128372361..128374948,2	MCF-7	breast:
3	chr2:128372104..128373861-chr2:128379908..128381447,2	K562	blood:
4	chr2:128366434..128369235-chr2:128371217..128373511,2	MCF-7	breast:
5	chr2:128372780..128375078-chr2:128457805..128460523,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO7B	TF binding region
ENSG00000173349	Chromatin interaction
ENSG00000169994	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011937	chr2:128295320-128405921	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1008294	chr2:128295320-128420654	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1007207	chr2:128295320-128429775	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1008457	chr2:128299079-128405921	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1009514	chr2:128299079-128420654	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1001624	chr2:128306660-128420654	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv875016	chr2:128330458-128401091	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv875017	chr2:128330458-128445585	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv875018	chr2:128330458-128465547	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv518085	chr2:128334413-128404860	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
15	nsv583037	chr2:128334470-128401091	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv875019	chr2:128340855-128408170	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv875020	chr2:128340855-128445585	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv875021	chr2:128340855-128465547	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
19	nsv470482	chr2:128350808-128465547	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv3357655	chr2:128373060-128376067	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128334400-128376400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:128359000-128376000	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr2:128359200-128395200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:128360000-128375000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr2:128370400-128377000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:128371000-128391600	Strong transcription	Fetal Intestine Large	intestine
7	chr2:128371400-128373800	Enhancers	Placenta	Placenta
8	chr2:128371400-128390800	Strong transcription	Fetal Intestine Small	intestine
9	chr2:128371600-128373600	Enhancers	HSMM	muscle
10	chr2:128371600-128373600	Enhancers	HSMMtube	muscle
11	chr2:128371800-128373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:128371800-128374600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:128371800-128378400	Enhancers	Fetal Thymus	thymus
14	chr2:128372000-128373400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:128372000-128373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:128372000-128373800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:128372200-128373400	Enhancers	Thymus	Thymus
18	chr2:128372200-128373600	Enhancers	HMEC	breast
19	chr2:128372200-128373600	Enhancers	NHEK	skin
20	chr2:128372400-128373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:128372400-128373400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:128372400-128373800	Enhancers	Osteobl	bone
23	chr2:128372400-128375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:128372600-128373400	Enhancers	Primary T cells from cord blood	blood
25	chr2:128372600-128375800	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:128372600-128378600	Weak transcription	Colonic Mucosa	Colon
27	chr2:128372800-128374600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:128372800-128374600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:128372800-128377000	Weak transcription	Spleen	Spleen
30	chr2:128373000-128373400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:128373000-128373400	Enhancers	Dnd41	blood
32	chr2:128373000-128374400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:128373000-128374400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:128373000-128374600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:128373000-128375400	Enhancers	Primary B cells from cord blood	blood
36	chr2:128373000-128380800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:128373200-128373400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:128373200-128379400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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