Variant report

Variant	rs55908960
Chromosome Location	chr7:6464048-6464049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:6463771-6464295	HCT-116	colon:	n/a	chr7:6464157-6464166 chr7:6464025-6464037 chr7:6464123-6464133
2	RAD21	chr7:6463912-6464143	K562	blood:	n/a	chr7:6464025-6464037 chr7:6464123-6464133
3	CTCF	chr7:6463978-6464101	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:6463952-6464109	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:6463899-6464168	NHEK	skin:	n/a	chr7:6464157-6464165
6	RAD21	chr7:6463787-6464285	MCF-7	breast:	n/a	chr7:6464157-6464166 chr7:6464025-6464037 chr7:6464123-6464133
7	CTCF	chr7:6463973-6464088	GM12891	blood:	n/a	n/a
8	CTCF	chr7:6463929-6464130	A549	lung:	n/a	n/a
9	POLR2A	chr7:6463426-6465112	HL-60	blood:	n/a	n/a
10	CTCF	chr7:6463960-6464110	K562	blood:	n/a	n/a
11	CTCF	chr7:6463993-6464096	GM13977	blood:	n/a	n/a
12	CTCF	chr7:6463880-6464130	K562	blood:	n/a	n/a
13	CTCF	chr7:6463922-6464131	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:6463980-6464130	BE2_C	brain:	n/a	n/a
15	CTCF	chr7:6463920-6464070	GM12878	blood:	n/a	n/a
16	CTCF	chr7:6463960-6464110	GM12869	blood:	n/a	n/a
17	CTCF	chr7:6463977-6464085	Fibrobl	skin:	n/a	n/a
18	CTCF	chr7:6463873-6464182	K562	blood:	n/a	chr7:6464157-6464165
19	MAZ	chr7:6463887-6464096	Hela-S3	cervix:	n/a	n/a
20	SPI1	chr7:6464041-6464473	HL-60	blood:	n/a	chr7:6464248-6464261
21	FOS	chr7:6463900-6464105	MCF10A-Er-Src	breast:	n/a	chr7:6464014-6464026 chr7:6464016-6464024 chr7:6464015-6464025 chr7:6464015-6464025
22	CTCF	chr7:6463876-6464181	H1-hESC	embryonic stem cell:	n/a	chr7:6464157-6464165
23	CTCF	chr7:6464000-6464150	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr7:6463953-6464086	HepG2	liver:	n/a	n/a
25	CTCF	chr7:6463948-6464128	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr7:6463938-6464125	K562	blood:	n/a	n/a
27	CTCF	chr7:6463920-6464070	A549	lung:	n/a	n/a
28	MAZ	chr7:6463995-6464112	K562	blood:	n/a	n/a
29	CTCF	chr7:6464020-6464170	HRE	kidney:	n/a	chr7:6464157-6464165
30	CTCF	chr7:6463940-6464090	GM06990	blood:	n/a	n/a
31	CTCF	chr7:6464000-6464150	NB4	blood:	n/a	n/a
32	CTCF	chr7:6463940-6464090	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr7:6463867-6464180	Hela-S3	cervix:	n/a	chr7:6464157-6464166 chr7:6464025-6464037 chr7:6464123-6464133
34	CTCF	chr7:6463890-6464193	MCF-7	breast:	n/a	chr7:6464157-6464165
35	CTCF	chr7:6463764-6464297	MCF-7	breast:	n/a	chr7:6464157-6464165
36	CTCF	chr7:6463980-6464130	RPTEC	kidney:	n/a	n/a
37	CTCF	chr7:6463892-6464153	MCF-7	breast:	n/a	n/a
38	SMC3	chr7:6463873-6464210	Hela-S3	cervix:	n/a	chr7:6463982-6463989
39	ELF1	chr7:6463881-6464226	GM12878	blood:	n/a	chr7:6464139-6464151
40	CTCF	chr7:6463940-6464090	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr7:6463979-6464097	GM19240	blood:	n/a	n/a
42	CTCF	chr7:6463960-6464110	NHEK	skin:	n/a	n/a
43	POLR2A	chr7:6463795-6464054	K562	blood:	n/a	n/a
44	RAD21	chr7:6463856-6464138	HepG2	liver:	n/a	chr7:6464025-6464037 chr7:6464123-6464133
45	CTCF	chr7:6464000-6464086	HepG2	liver:	n/a	n/a
46	CTCF	chr7:6463902-6464107	K562	blood:	n/a	n/a
47	CTCF	chr7:6463900-6464050	HRPEpiC	eye:	n/a	n/a
48	MYC	chr7:6463800-6464870	NB4	blood:	n/a	chr7:6464142-6464152
49	CTCF	chr7:6463903-6464157	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:6463877-6464140	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6412676..6416102-chr7:6462596..6465621,3	MCF-7	breast:
2	chr7:6459143..6461711-chr7:6462987..6466871,3	K562	blood:
3	chr7:6459412..6462059-chr7:6463875..6466225,2	K562	blood:
4	chr7:6463957..6465802-chr7:6468835..6470445,2	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11977783	1.00[AMR][1000 genomes]
rs55652018	1.00[ASN][1000 genomes]
rs55844112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57480273	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66516944	1.00[EUR][1000 genomes]
rs66634073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73057340	1.00[ASN][1000 genomes]
rs7811883	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
9	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
10	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
11	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:6444000-6474600	Strong transcription	Lung	lung
13	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
15	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
17	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
18	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:6457400-6464200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
23	chr7:6458800-6467600	Strong transcription	Ovary	ovary
24	chr7:6458800-6469200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
28	chr7:6459000-6464400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr7:6459000-6466000	Strong transcription	NHLF	lung
30	chr7:6459000-6466200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:6459000-6466200	Strong transcription	Spleen	Spleen
32	chr7:6459000-6466600	Strong transcription	Gastric	stomach
33	chr7:6459000-6467600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:6459000-6469400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:6459000-6471000	Strong transcription	Dnd41	blood
36	chr7:6459000-6472000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:6459000-6474400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:6459000-6474600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:6459000-6474800	Strong transcription	Primary T cells from cord blood	blood
40	chr7:6459200-6467400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:6459600-6464200	Weak transcription	HSMM	muscle
42	chr7:6459600-6464600	Weak transcription	HSMMtube	muscle
43	chr7:6459600-6469400	Strong transcription	Osteobl	bone
44	chr7:6459600-6474800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
46	chr7:6460000-6464200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
47	chr7:6460000-6466200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:6460000-6469200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:6460000-6469200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:6460000-6471000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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