Variant report

Variant	rs74943389
Chromosome Location	chr3:194991000-194991001
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194989426..194991874-chr3:195268477..195270198,3	MCF-7	breast:
2	chr3:194990164..194994201-chr3:195268703..195270348,3	K562	blood:
3	chr3:194989462..194991407-chr3:195163007..195164718,2	MCF-7	breast:
4	chr3:194990005..194994037-chr3:194997788..195001012,5	K562	blood:
5	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
6	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:
7	chr3:194989967..194994399-chr3:195244037..195248390,6	K562	blood:
8	chr3:194990296..194992305-chr3:195248848..195251348,4	MCF-7	breast:
9	chr3:194979343..194983092-chr3:194989595..194993137,5	K562	blood:
10	chr3:194990545..194994377-chr3:195246139..195250306,5	K562	blood:
11	chr3:194990474..194992109-chr3:195269592..195271685,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252620	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000114331	Chromatin interaction
ENSG00000223711	Chromatin interaction
ENSG00000173950	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	65 gene(s)	inside rSNPs	diseases
7	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
9	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
12	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	59 gene(s)	inside rSNPs	diseases
13	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
14	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
16	esv1818370	chr3:194987569-194995096	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
17	esv1818606	chr3:194987569-194995096	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
18	nsv592983	chr3:194987569-194995096	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
19	nsv592984	chr3:194990363-194991844	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194981800-194991200	Weak transcription	Small Intestine	intestine
2	chr3:194989400-194991000	Enhancers	Spleen	Spleen
3	chr3:194989400-194991200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr3:194989600-194991000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:194990000-194991000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:194990000-194991000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr3:194990000-194991000	Flanking Active TSS	Fetal Brain Male	brain
8	chr3:194990000-194991000	Flanking Active TSS	HUVEC	blood vessel
9	chr3:194990000-194991000	Flanking Active TSS	K562	blood
10	chr3:194990000-194991000	Flanking Active TSS	NHEK	skin
11	chr3:194990000-194991200	Flanking Active TSS	Fetal Brain Female	brain
12	chr3:194990000-194991200	Flanking Active TSS	GM12878-XiMat	blood
13	chr3:194990000-194991400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:194990000-194991400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:194990000-194991400	Flanking Active TSS	Dnd41	blood
16	chr3:194990000-194991600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:194990200-194991000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194990200-194991000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:194990200-194991000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:194990200-194991000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:194990200-194991000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr3:194990200-194991000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:194990200-194991000	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr3:194990200-194991000	Enhancers	Pancreas	Pancrea
25	chr3:194990200-194991000	Flanking Active TSS	Hela-S3	cervix
26	chr3:194990200-194991200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:194990200-194991200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:194990200-194991200	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr3:194990200-194991400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr3:194990200-194991600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:194990400-194991000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:194990400-194991000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr3:194990400-194991000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr3:194990400-194991000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr3:194990400-194991000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr3:194990400-194991000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:194990400-194991000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:194990400-194991000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr3:194990400-194991000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:194990400-194991000	Flanking Active TSS	Fetal Heart	heart
41	chr3:194990400-194991000	Flanking Active TSS	Osteobl	bone
42	chr3:194990400-194991200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:194990400-194991200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:194990400-194991200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr3:194990400-194991200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr3:194990400-194991200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:194990400-194991200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr3:194990400-194991200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr3:194990400-194991200	Flanking Active TSS	HMEC	breast
50	chr3:194990400-194991200	Flanking Active TSS	HSMM	muscle

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