Variant report

Variant	rs572558673
Chromosome Location	chr7:149411461-149411462
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	MAZ	chr7:149411239-149413109	IMR90	lung:	n/a	chr7:149411976-149411986
2	HDAC2	chr7:149411396-149411756	K562	blood:	n/a	n/a
3	ZBTB7A	chr7:149411216-149412382	K562	blood:	n/a	n/a
4	MAX	chr7:149411357-149412225	K562	blood:	n/a	chr7:149411976-149411986
5	REST	chr7:149411237-149412420	H1-neurons	neurons:	n/a	n/a
6	MAX	chr7:149411122-149411828	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr7:149411409-149412665	K562	blood:	n/a	n/a
8	BACH1	chr7:149411377-149411528	K562	blood:	n/a	n/a
9	EGR1	chr7:149411370-149412120	K562	blood:	n/a	chr7:149411532-149411546 chr7:149411475-149411488 chr7:149412087-149412096 chr7:149411475-149411488 chr7:149411760-149411774 chr7:149411853-149411877 chr7:149411533-149411546 chr7:149411534-149411545 chr7:149411977-149411990 chr7:149411534-149411543
10	SIN3A	chr7:149411303-149412706	H1-hESC	embryonic stem cell:	n/a	chr7:149411715-149411726 chr7:149411983-149411996
11	CREB1	chr7:149411300-149412407	HepG2	liver:	n/a	n/a
12	EGR1	chr7:149411333-149411914	MCF-7	breast:	n/a	chr7:149411532-149411546 chr7:149411475-149411488 chr7:149411475-149411488 chr7:149411760-149411774 chr7:149411853-149411877 chr7:149411533-149411546 chr7:149411534-149411545 chr7:149411534-149411543
13	NRF1	chr7:149411242-149412642	SK-N-SH	brain:	n/a	chr7:149411480-149411489 chr7:149412083-149412097
14	POLR2A	chr7:149411425-149411798	U87	brain:	n/a	n/a
15	POLR2A	chr7:149411420-149411855	PANC-1	pancreas:	n/a	n/a
16	GTF2F1	chr7:149411442-149411620	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr7:149411328-149412331	K562	blood:	n/a	chr7:149411471-149411485 chr7:149412063-149412072 chr7:149411844-149411858
18	POLR2A	chr7:149411461-149412303	K562	blood:	n/a	n/a
19	SP4	chr7:149411274-149411976	H1-hESC	embryonic stem cell:	n/a	chr7:149411823-149411839 chr7:149411823-149411834
20	MAX	chr7:149411356-149412455	K562	blood:	n/a	chr7:149411976-149411986
21	POLR2A	chr7:149411455-149412819	Raji	blood:	n/a	n/a
22	TEAD4	chr7:149411359-149411863	K562	blood:	n/a	n/a
23	CHD2	chr7:149411400-149412925	GM12878	blood:	n/a	n/a
24	EGR1	chr7:149411441-149412023	GM12878	blood:	n/a	chr7:149411532-149411546 chr7:149411475-149411488 chr7:149411475-149411488 chr7:149411760-149411774 chr7:149411853-149411877 chr7:149411533-149411546 chr7:149411534-149411545 chr7:149411977-149411990 chr7:149411534-149411543
25	POLR2A	chr7:149411460-149411840	ECC-1	luminal epithelium:	n/a	n/a
26	RUNX3	chr7:149411234-149411935	GM12878	blood:	n/a	n/a
27	CREB1	chr7:149411220-149412402	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr7:149411271-149412846	K562	blood:	n/a	chr7:149412484-149412494 chr7:149411982-149411991 chr7:149411480-149411489 chr7:149411844-149411854
29	MAX	chr7:149411449-149412468	SK-N-SH	brain:	n/a	chr7:149411976-149411986
30	SP4	chr7:149411420-149412155	H1-hESC	embryonic stem cell:	n/a	chr7:149411823-149411839 chr7:149411823-149411834 chr7:149411977-149411993
31	CHD1	chr7:149411356-149411509	H1-hESC	embryonic stem cell:	n/a	n/a
32	HEY1	chr7:149411429-149411778	K562	blood:	n/a	chr7:149411475-149411490
33	ZMIZ1	chr7:149411359-149411686	K562	blood:	n/a	n/a
34	IRF1	chr7:149411456-149412265	K562	blood:	n/a	chr7:149411821-149411835 chr7:149411981-149411995 chr7:149411810-149411824
35	JUND	chr7:149411457-149412971	K562	blood:	n/a	n/a
36	MYC	chr7:149411420-149411765	MCF-7	breast:	n/a	n/a
37	BACH1	chr7:149411239-149411811	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZBTB7A	chr7:149411337-149412607	ECC-1	luminal epithelium:	n/a	n/a
39	SETDB1	chr7:149410362-149411829	K562	blood:	n/a	chr7:149411590-149411614
40	POLR2A	chr7:149411415-149411801	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:149411364-149412616	H1-hESC	embryonic stem cell:	n/a	n/a
42	GATA2	chr7:149411099-149411868	SH-SY5Y	brain:	n/a	n/a
43	E2F6	chr7:149410854-149411771	H1-hESC	embryonic stem cell:	n/a	chr7:149410926-149410933 chr7:149411480-149411489 chr7:149410988-149410997
44	ETS1	chr7:149411345-149412461	K562	blood:	n/a	chr7:149411864-149411877 chr7:149411825-149411836 chr7:149411865-149411878
45	ZNF384	chr7:149411298-149411731	K562	blood:	n/a	n/a
46	MAX	chr7:149411332-149412466	K562	blood:	n/a	chr7:149411976-149411986
47	MAX	chr7:149411025-149412523	GM12878	blood:	n/a	chr7:149411976-149411986
48	E2F6	chr7:149411365-149411899	A549	lung:	n/a	chr7:149411480-149411489 chr7:149411844-149411854
49	MXI1	chr7:149410868-149412535	IMR90	lung:	n/a	n/a
50	RCOR1	chr7:149411447-149411689	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:149410803..149414471-chr7:149419495..149421257,3	K562	blood:
2	chr7:149409957..149411791-chr7:149503300..149505720,2	K562	blood:
3	chr7:149319988..149323136-chr7:149410219..149413557,5	MCF-7	breast:
4	chr7:149320427..149322240-chr7:149410795..149412793,2	MCF-7	breast:
5	chr7:149320371..149323534-chr7:149411288..149414666,4	K562	blood:
6	chr7:149404563..149406665-chr7:149410046..149411714,2	MCF-7	breast:
7	chr7:149395351..149398006-chr7:149410098..149411759,2	MCF-7	breast:

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133624	Chromatin interaction
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3359659	chr7:149410544-149413392	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3424364	chr7:149410869-149412967	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149410400-149412200	Enhancers	Fetal Brain Male	brain
2	chr7:149410800-149411600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr7:149410800-149411600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:149410800-149411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:149410800-149411600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:149410800-149411600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:149410800-149411800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr7:149410800-149412600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:149410800-149412600	Active TSS	Brain Substantia Nigra	brain
10	chr7:149410800-149413000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr7:149411000-149411600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:149411000-149411600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr7:149411000-149411600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:149411000-149411600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:149411000-149411600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:149411000-149411600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:149411000-149411600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:149411000-149411600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:149411000-149411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:149411000-149411600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:149411000-149411600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:149411000-149411600	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr7:149411000-149411600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr7:149411000-149411600	Flanking Active TSS	Placenta	Placenta
28	chr7:149411000-149411600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:149411000-149411600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr7:149411000-149411800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr7:149411000-149411800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr7:149411000-149412200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:149411000-149412400	Active TSS	Brain Germinal Matrix	brain
34	chr7:149411000-149412400	Active TSS	Fetal Brain Female	brain
35	chr7:149411000-149412400	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:149411000-149412600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:149411000-149412600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:149411000-149412600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:149411000-149412600	Active TSS	Colon Smooth Muscle	Colon
40	chr7:149411000-149412600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr7:149411000-149412600	Active TSS	Psoas Muscle	Psoas
42	chr7:149411000-149413000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:149411200-149411600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:149411200-149411600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:149411200-149411600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:149411200-149411600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr7:149411200-149411600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr7:149411200-149411600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:149411200-149411600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:149411200-149411600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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