Variant report

Variant	rs6461934
Chromosome Location	chr7:26416666-26416667
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	POLR2A	chr7:26415563-26416913	Raji	blood:	n/a	n/a
2	TAF1	chr7:26416573-26416963	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:26416648-26416915	ECC-1	luminal epithelium:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
4	CTCF	chr7:26415555-26417484	SK-N-SH	brain:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
5	POLR2A	chr7:26416609-26416939	HUVEC	blood vessel:	n/a	n/a
6	SMC3	chr7:26416642-26416996	K562	blood:	n/a	chr7:26416803-26416817
7	CTCF	chr7:26416625-26416993	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
8	RAD21	chr7:26415294-26417375	SK-N-SH	brain:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
9	ELF1	chr7:26415807-26416948	GM12878	blood:	n/a	chr7:26416815-26416824
10	POLR2A	chr7:26415650-26416900	NB4	blood:	n/a	n/a
11	MAX	chr7:26416589-26417039	A549	lung:	n/a	n/a
12	ELF1	chr7:26416624-26416910	HepG2	liver:	n/a	chr7:26416815-26416824
13	RAD21	chr7:26416527-26417128	HCT-116	colon:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
14	POLR2A	chr7:26416484-26416922	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:26415204-26417187	H1-neurons	neurons:	n/a	n/a
16	HA-E2F1	chr7:26415441-26417194	MCF-7	breast:	n/a	n/a
17	RAD21	chr7:26416638-26417053	GM12878	blood:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
18	RAD21	chr7:26416539-26417065	H1-hESC	embryonic stem cell:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
19	CTCF	chr7:26416654-26416975	MCF-7	breast:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
20	RAD21	chr7:26416481-26417120	HCT-116	colon:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
21	CTCF	chr7:26416526-26417055	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
22	YY1	chr7:26416607-26416936	GM12878	blood:	n/a	n/a
23	ATF2	chr7:26416640-26417031	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXM1	chr7:26416552-26417047	GM12878	blood:	n/a	n/a
25	CREB1	chr7:26416636-26416971	A549	lung:	n/a	n/a
26	POLR2A	chr7:26416479-26416799	HepG2	liver:	n/a	n/a
27	ZNF143	chr7:26416580-26417004	H1-hESC	embryonic stem cell:	n/a	chr7:26416810-26416820
28	MXI1	chr7:26416623-26416834	GM12878	blood:	n/a	n/a
29	YY1	chr7:26416653-26416999	GM12892	blood:	n/a	n/a
30	RAD21	chr7:26416453-26417249	MCF-7	breast:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
31	PML	chr7:26416496-26417084	GM12878	blood:	n/a	n/a
32	JUND	chr7:26416641-26416991	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB7A	chr7:26415733-26417051	ECC-1	luminal epithelium:	n/a	chr7:26416809-26416818
34	ELF1	chr7:26416391-26417036	MCF-7	breast:	n/a	chr7:26416815-26416824
35	CTCF	chr7:26416610-26416967	GM12891	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
36	CTCF	chr7:26416487-26417136	MCF-7	breast:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
37	CTCF	chr7:26416500-26416992	Spleen_OC	spleen:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
38	CTCF	chr7:26416665-26416921	SK-N-SH_RA	brain:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416802-26416818
39	RAD21	chr7:26416641-26417029	HepG2	liver:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
40	CTCF	chr7:26416576-26416950	HepG2	liver:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
41	CTCF	chr7:26416461-26416990	GM19238	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
42	RAD21	chr7:26416403-26417160	H1-hESC	embryonic stem cell:	n/a	chr7:26416802-26416821 chr7:26416842-26416855
43	POLR2A	chr7:26416079-26416974	HUVEC	blood vessel:	n/a	n/a
44	TCF12	chr7:26416455-26417049	ECC-1	luminal epithelium:	n/a	n/a
45	ELF1	chr7:26416574-26416980	GM12878	blood:	n/a	chr7:26416815-26416824
46	MAX	chr7:26415606-26417060	MCF-7	breast:	n/a	chr7:26415950-26415959 chr7:26415928-26415937
47	POLR2A	chr7:26415176-26417257	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr7:26416600-26416982	K562	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
49	CTCF	chr7:26416571-26416942	GM10266	blood:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818
50	CTCF	chr7:26416617-26417012	IMR90	lung:	n/a	chr7:26416803-26416824 chr7:26416801-26416819 chr7:26416618-26416627 chr7:26416802-26416818

No.	Distal block	Cell Line	Cell type
1	chr7:26416434..26417332-chr7:26547137..26548299,3	MCF-7	breast:
2	chr7:26416384..26417209-chr7:26547085..26548227,3	MCF-7	breast:
3	chr7:26416529..26417384-chr7:26588868..26589443,2	MCF-7	breast:
4	chr7:26416373..26417270-chr7:26706909..26707815,11	MCF-7	breast:
5	chr7:26416346..26417264-chr7:26706784..26707684,6	MCF-7	breast:
6	chr7:26416444..26417250-chr7:26437744..26438259,2	MCF-7	breast:
7	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225792	TF binding region
ENSG00000122565	Chromatin interaction
ENSG00000214870	Chromatin interaction
ENSG00000122566	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10807832	0.86[EUR][1000 genomes]
rs10951132	0.86[EUR][1000 genomes]
rs10951133	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10951134	0.86[ASN][1000 genomes]
rs10951135	0.86[ASN][1000 genomes]
rs10951136	0.86[ASN][1000 genomes]
rs13241375	0.86[ASN][1000 genomes]
rs3193526	0.86[EUR][1000 genomes]
rs6461935	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6950352	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967677	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9638835	0.86[ASN][1000 genomes]
rs9639536	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9639538	0.86[ASN][1000 genomes]
rs9639539	0.86[ASN][1000 genomes]
rs966416	0.87[EUR][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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26413600-26416800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:26414000-26417000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:26414200-26416800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:26414600-26416800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26415000-26416800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:26415200-26416800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:26415200-26416800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:26415200-26416800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:26415200-26417000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:26415200-26417200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:26415400-26416800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:26415400-26416800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:26415400-26416800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr7:26415400-26416800	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr7:26415400-26416800	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:26415400-26416800	Active TSS	HUVEC	blood vessel
17	chr7:26415400-26416800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr7:26415400-26416800	Bivalent/Poised TSS	NHEK	skin
19	chr7:26415400-26417000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:26415400-26417000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr7:26415400-26417000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr7:26415400-26417200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr7:26415600-26416800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:26415600-26416800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:26415600-26416800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:26415600-26416800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:26415600-26416800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:26415600-26416800	Active TSS	Brain Substantia Nigra	brain
29	chr7:26415600-26416800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr7:26415600-26416800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
31	chr7:26415600-26416800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr7:26415600-26416800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr7:26415600-26416800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr7:26415600-26416800	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr7:26415600-26416800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
36	chr7:26415600-26416800	Bivalent/Poised TSS	Small Intestine	intestine
37	chr7:26415600-26416800	Active TSS	HepG2	liver
38	chr7:26415600-26417000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:26415600-26417000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:26415600-26417000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr7:26415600-26417000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:26415600-26417000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:26415600-26417000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:26415600-26417000	Active TSS	Fetal Brain Female	brain
47	chr7:26415600-26417000	Active TSS	Fetal Kidney	kidney
48	chr7:26415600-26417000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr7:26415600-26417000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr7:26415600-26417200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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