Variant report

Variant	rs6693996
Chromosome Location	chr1:209830111-209830112
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	POLR2A	chr1:209828256-209831841	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209828657..209830867-chr1:209832436..209835297,2	K562	blood:
2	chr1:209825802..209827557-chr1:209829435..209831537,2	MCF-7	breast:

Variant related genes	Relation type
LAMB3	TF binding region
ENSG00000196878	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119307	1.00[AMR][1000 genomes]
rs59510838	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209819200-209831200	Enhancers	Pancreas	Pancrea
2	chr1:209823000-209836200	Weak transcription	Ovary	ovary
3	chr1:209825000-209830200	Weak transcription	HUVEC	blood vessel
4	chr1:209825000-209830600	Weak transcription	Aorta	Aorta
5	chr1:209826200-209831000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:209826600-209834200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:209826800-209830600	Weak transcription	Spleen	Spleen
8	chr1:209827000-209830400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:209827000-209830600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:209827000-209831200	Enhancers	Hela-S3	cervix
11	chr1:209827000-209832400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:209827200-209830600	Weak transcription	NH-A	brain
13	chr1:209827200-209832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:209827200-209832200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:209827200-209832400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:209827400-209833600	Enhancers	Fetal Intestine Large	intestine
17	chr1:209827400-209833800	Enhancers	Fetal Intestine Small	intestine
18	chr1:209827600-209831200	Enhancers	Stomach Mucosa	stomach
19	chr1:209827600-209832200	Weak transcription	Right Atrium	heart
20	chr1:209827800-209831000	Weak transcription	Right Ventricle	heart
21	chr1:209827800-209832600	Enhancers	Liver	Liver
22	chr1:209828000-209830600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:209828000-209830600	Weak transcription	GM12878-XiMat	blood
24	chr1:209828200-209830400	Weak transcription	Fetal Heart	heart
25	chr1:209828400-209832400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:209828400-209844000	Weak transcription	Left Ventricle	heart
27	chr1:209828600-209830600	Weak transcription	Small Intestine	intestine
28	chr1:209829200-209830400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:209829400-209831800	Weak transcription	Brain Germinal Matrix	brain
30	chr1:209829400-209833400	Weak transcription	Fetal Lung	lung
31	chr1:209829600-209830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:209829600-209830600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:209829600-209830600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:209829600-209830800	Weak transcription	Lung	lung
35	chr1:209829600-209830800	Enhancers	NHEK	skin
36	chr1:209829800-209830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:209829800-209830200	Weak transcription	K562	blood
38	chr1:209829800-209830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:209829800-209830600	Enhancers	Osteobl	bone
40	chr1:209829800-209830800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:209829800-209830800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:209829800-209830800	Enhancers	HMEC	breast
43	chr1:209829800-209831000	Weak transcription	Gastric	stomach
44	chr1:209829800-209832000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:209829800-209832200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr1:209829800-209832400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr1:209829800-209834000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:209829800-209842800	Weak transcription	Psoas Muscle	Psoas
49	chr1:209830000-209830400	Weak transcription	Esophagus	oesophagus

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