Variant report

Variant	rs73028638
Chromosome Location	chr6:166722939-166722940
allele	C/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	MAX	chr6:166722673-166723223	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr6:166722349-166723173	MCF-7	breast:	n/a	n/a
3	E2F6	chr6:166722674-166723333	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr6:166722510-166723093	MCF-7	breast:	n/a	n/a
5	MAX	chr6:166722834-166723013	K562	blood:	n/a	n/a
6	CTCF	chr6:166722820-166722970	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr6:166722824-166722976	MCF-7	breast:	n/a	n/a
8	MAX	chr6:166722822-166723051	K562	blood:	n/a	n/a
9	MAX	chr6:166722766-166723125	K562	blood:	n/a	n/a
10	MAX	chr6:166722800-166723116	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr6:166722885-166722950	HepG2	liver:	n/a	n/a
12	CTCF	chr6:166722820-166722970	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr6:166722817-166722958	MCF-7	breast:	n/a	n/a
14	E2F6	chr6:166722745-166723220	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr6:166722836-166722969	MCF-7	breast:	n/a	n/a
16	NR2F2	chr6:166722492-166723108	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr6:166722521-166723173	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:166722832-166722960	H1-hESC	embryonic stem cell:	n/a	n/a
19	GATA3	chr6:166722618-166722972	MCF-7	breast:	n/a	n/a
20	RAD21	chr6:166722730-166723083	HepG2	liver:	n/a	n/a
21	E2F6	chr6:166722797-166723067	K562	blood:	n/a	n/a
22	FOXA2	chr6:166722653-166722981	HepG2	liver:	n/a	n/a
23	SIN3A	chr6:166722783-166722982	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr6:166722838-166723040	HepG2	liver:	n/a	n/a
25	MAX	chr6:166722553-166723165	MCF-7	breast:	n/a	n/a
26	FOXA1	chr6:166722598-166723067	HepG2	liver:	n/a	chr6:166722826-166722841 chr6:166722805-166722820
27	FOXA1	chr6:166722620-166722986	T-47D	breast:	n/a	chr6:166722826-166722841 chr6:166722805-166722820
28	GATA3	chr6:166722265-166722979	MCF-7	breast:	n/a	n/a
29	FOXA1	chr6:166722587-166723099	HepG2	liver:	n/a	chr6:166722826-166722841 chr6:166722805-166722820
30	FOXA1	chr6:166722614-166723105	HepG2	liver:	n/a	chr6:166722826-166722841 chr6:166722805-166722820
31	FOXA1	chr6:166722606-166722977	T-47D	breast:	n/a	chr6:166722826-166722841 chr6:166722805-166722820
32	CTCF	chr6:166722835-166722982	LNCaP	prostate:	n/a	n/a
33	CTCF	chr6:166722894-166722954	K562	blood:	n/a	n/a
34	RAD21	chr6:166722745-166723044	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr6:166722783-166723051	HepG2	liver:	n/a	n/a
36	CTCF	chr6:166722808-166722997	MCF-7	breast:	n/a	n/a
37	MAX	chr6:166722763-166723164	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:166722651..166724604-chr6:166784233..166785851,2	K562	blood:
2	chr6:166722484..166724020-chr6:166795532..166798475,2	K562	blood:
3	chr6:166722635..166726585-chr6:166755013..166756920,3	K562	blood:
4	chr6:166722256..166724406-chr6:166752301..166754007,2	MCF-7	breast:

Variant related genes	Relation type
PRR18	TF binding region
ENSG00000060762	Chromatin interaction
ENSG00000198818	Chromatin interaction
ENSG00000261420	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6928141	1.00[AFR][1000 genomes]
rs7758459	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv886935	chr6:166704744-166726566	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886936	chr6:166714024-166731289	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166720600-166723000	Flanking Active TSS	Liver	Liver
2	chr6:166722000-166723000	Enhancers	Gastric	stomach
3	chr6:166722200-166723000	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr6:166722400-166723000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr6:166722400-166723000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:166722400-166723000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:166722400-166723000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr6:166722400-166723000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:166722400-166723000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:166722400-166723000	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr6:166722400-166723000	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr6:166722400-166723200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:166722400-166723200	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr6:166722400-166723200	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:166722400-166723400	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr6:166722400-166723800	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:166722600-166723200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr6:166722600-166723200	Enhancers	Brain Hippocampus Middle	brain
19	chr6:166722600-166723200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:166722600-166732800	Weak transcription	GM12878-XiMat	blood
21	chr6:166722600-166735600	Weak transcription	Brain Angular Gyrus	brain
22	chr6:166722800-166723000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:166722800-166723000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:166722800-166723200	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr6:166722800-166723200	Strong transcription	Right Atrium	heart
26	chr6:166722800-166731200	Weak transcription	Spleen	Spleen

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