Variant report

Variant	rs60760231
Chromosome Location	chr7:140104405-140104406
allele	C/T
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	ELF1	chr7:140103841-140104488	K562	blood:	n/a	n/a
2	TEAD4	chr7:140104402-140104925	ECC-1	luminal epithelium:	n/a	n/a
3	ZEB1	chr7:140103369-140104447	HepG2	liver:	n/a	chr7:140103787-140103794
4	SIN3A	chr7:140103460-140104517	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr7:140103531-140104496	MCF-7	breast:	n/a	n/a
6	TEAD4	chr7:140104373-140104978	ECC-1	luminal epithelium:	n/a	n/a
7	ELF1	chr7:140103560-140104453	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140063593..140066561-chr7:140103123..140105495,2	MCF-7	breast:
2	chr7:140102606..140105072-chr7:140105892..140108161,2	K562	blood:
3	chr7:140097102..140100754-chr7:140100879..140105218,4	MCF-7	breast:

Variant related genes	Relation type
RAB19	TF binding region
SLC37A3	TF binding region
ENSG00000146955	Chromatin interaction
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17161420	1.00[AMR][1000 genomes]
rs57402050	1.00[AMR][1000 genomes]
rs57695125	1.00[AMR][1000 genomes]
rs57746003	1.00[AMR][1000 genomes]
rs61135242	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140101400-140104600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr7:140103400-140104600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:140103400-140104600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr7:140103400-140104600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr7:140103400-140104600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:140103400-140104600	Flanking Active TSS	HMEC	breast
7	chr7:140103400-140104800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:140103400-140105000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:140103600-140104600	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:140103800-140104600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:140103800-140104600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:140103800-140104600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:140103800-140104600	Bivalent Enhancer	Fetal Brain Female	brain
14	chr7:140103800-140104600	Active TSS	Pancreas	Pancrea
15	chr7:140103800-140104600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:140104000-140104600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:140104000-140104800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:140104200-140104600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:140104200-140104600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:140104200-140104600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:140104200-140104600	Active TSS	Primary B cells from cord blood	blood
22	chr7:140104200-140104600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr7:140104200-140104600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:140104200-140104600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:140104200-140104600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:140104200-140104600	Active TSS	Fetal Intestine Large	intestine
27	chr7:140104200-140104600	Enhancers	Fetal Lung	lung
28	chr7:140104200-140104600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:140104200-140104800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:140104200-140104800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:140104200-140104800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:140104200-140104800	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:140104200-140104800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:140104200-140104800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:140104200-140104800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:140104200-140104800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr7:140104200-140104800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:140104200-140104800	Active TSS	Fetal Intestine Small	intestine
39	chr7:140104200-140104800	Flanking Active TSS	Fetal Kidney	kidney
40	chr7:140104200-140104800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr7:140104200-140104800	Enhancers	Small Intestine	intestine
42	chr7:140104200-140104800	Flanking Active TSS	Stomach Mucosa	stomach
43	chr7:140104200-140104800	Enhancers	Dnd41	blood
44	chr7:140104200-140104800	Bivalent Enhancer	NH-A	brain
45	chr7:140104200-140105000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:140104200-140105400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:140104200-140107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:140104200-140107000	Weak transcription	Lung	lung
49	chr7:140104200-140110200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:140104200-140125800	Weak transcription	Right Atrium	heart

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