Variant report

Variant	rs74090678
Chromosome Location	chr1:78108997-78108998
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	TEAD4	chr1:78108644-78109003	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:78108654-78109001	H1-hESC	embryonic stem cell:	n/a	chr1:78108821-78108832

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78102953..78105549-chr1:78108129..78110089,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL370P	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35178440	1.00[EUR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[EUR][1000 genomes]
rs58120905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59338720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59883033	1.00[EUR][1000 genomes]
rs60000721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60658102	1.00[EUR][1000 genomes]
rs61553400	1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090646	1.00[EUR][1000 genomes]
rs74090649	1.00[EUR][1000 genomes]
rs74090653	1.00[EUR][1000 genomes]
rs74090666	1.00[AFR][1000 genomes]
rs74090669	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090686	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[EUR][1000 genomes]
rs74092316	1.00[EUR][1000 genomes]
rs74092323	1.00[EUR][1000 genomes]
rs74092325	1.00[EUR][1000 genomes]
rs74092336	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78094800-78113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:78096200-78110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:78096200-78111000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:78098400-78113400	Weak transcription	Pancreas	Pancrea
6	chr1:78098400-78116800	Weak transcription	Right Ventricle	heart
7	chr1:78098600-78110600	Weak transcription	Lung	lung
8	chr1:78098600-78111400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:78098600-78113200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:78098800-78110200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:78098800-78110600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:78099000-78110200	Weak transcription	Placenta	Placenta
13	chr1:78099000-78110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:78099000-78110600	Weak transcription	Esophagus	oesophagus
15	chr1:78099000-78110600	Weak transcription	Ovary	ovary
16	chr1:78099000-78110600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:78099000-78110600	Weak transcription	Thymus	Thymus
18	chr1:78099000-78111600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:78099000-78112600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:78099000-78113800	Weak transcription	Fetal Brain Male	brain
21	chr1:78099000-78113800	Weak transcription	Spleen	Spleen
22	chr1:78099000-78147200	Weak transcription	Gastric	stomach
23	chr1:78099200-78110400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:78099200-78110400	Weak transcription	Fetal Brain Female	brain
25	chr1:78099200-78110600	Weak transcription	Left Ventricle	heart
26	chr1:78099200-78110600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:78099200-78114000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:78099200-78115000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:78099200-78120800	Weak transcription	Small Intestine	intestine
30	chr1:78099200-78132400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:78099600-78110400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:78099600-78116800	Weak transcription	Aorta	Aorta
33	chr1:78100400-78110600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:78100600-78110600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:78100600-78111600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:78100800-78110200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:78100800-78110400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:78100800-78110400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:78100800-78115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:78100800-78116600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:78100800-78133200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:78101000-78110600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:78101000-78111000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:78101000-78113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:78101400-78110400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:78102600-78114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:78102800-78109800	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:78102800-78110400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:78102800-78110400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:78103400-78109800	Weak transcription	Fetal Stomach	stomach

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