Variant report

Variant	rs372000188
Chromosome Location	chr6:26429018-26429019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26428903..26431040-chr6:26520601..26522647,2	K562	blood:
2	chr6:26422974..26425534-chr6:26428185..26431650,3	K562	blood:
3	chr6:26155432..26157663-chr6:26427016..26429794,2	K562	blood:
4	chr6:26158606..26161579-chr6:26427700..26429391,2	K562	blood:
5	chr6:26193865..26195647-chr6:26428067..26430005,2	K562	blood:

Variant related genes	Relation type
ENSG00000124549	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000168298	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
7	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
12	nsv883497	chr6:26369549-26442786	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv883498	chr6:26369549-26443853	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv883499	chr6:26377591-26454454	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv3427999	chr6:26378373-26453532	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv462664	chr6:26379537-26451553	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv601184	chr6:26379537-26451553	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	esv2763996	chr6:26423901-26465384	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv1017824	chr6:26425410-26465384	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1030289	chr6:26428314-26464017	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
21	nsv1033003	chr6:26428314-26465384	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
22	nsv1031229	chr6:26428314-26467182	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
23	nsv1031238	chr6:26428314-26471596	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26422200-26439800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:26422400-26431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:26422400-26432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:26422400-26439400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:26422400-26439400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:26422400-26439600	Weak transcription	Thymus	Thymus
7	chr6:26422600-26430800	Weak transcription	A549	lung
8	chr6:26422600-26431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:26422600-26431000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:26422600-26431000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:26422600-26431200	Weak transcription	Fetal Thymus	thymus
12	chr6:26422600-26431400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:26422600-26432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:26422600-26432800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:26422600-26434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:26422600-26434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:26422600-26434600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:26422600-26439400	Weak transcription	HMEC	breast
19	chr6:26422600-26439600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:26422600-26439800	Weak transcription	Primary B cells from cord blood	blood
21	chr6:26422600-26440000	Weak transcription	Psoas Muscle	Psoas
22	chr6:26423000-26431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:26423000-26431600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:26423000-26433200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:26423200-26432600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:26423200-26432800	Weak transcription	GM12878-XiMat	blood
27	chr6:26423200-26440000	Weak transcription	Colonic Mucosa	Colon
28	chr6:26423400-26431000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:26423400-26431200	Weak transcription	Gastric	stomach
30	chr6:26423400-26431400	Weak transcription	Brain Substantia Nigra	brain
31	chr6:26423600-26439400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:26423600-26440400	Weak transcription	Right Ventricle	heart
33	chr6:26423800-26431000	Weak transcription	NHEK	skin
34	chr6:26423800-26431400	Weak transcription	Pancreas	Pancrea
35	chr6:26423800-26439600	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:26423800-26439800	Weak transcription	Hela-S3	cervix
37	chr6:26424800-26431400	Weak transcription	Right Atrium	heart
38	chr6:26424800-26431600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:26424800-26431800	Weak transcription	Aorta	Aorta
40	chr6:26424800-26433400	Weak transcription	Esophagus	oesophagus
41	chr6:26425000-26430400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:26425000-26433400	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:26425200-26432600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:26425400-26431200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:26425400-26431200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:26425400-26432400	Strong transcription	HSMM	muscle
47	chr6:26425600-26432400	Strong transcription	Fetal Intestine Large	intestine
48	chr6:26425600-26432600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:26425600-26432600	Strong transcription	Fetal Lung	lung
50	chr6:26425600-26433400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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