Variant report

Variant	rs183461551
Chromosome Location	chr7:128170385-128170386
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	MAZ	chr7:128170303-128172201	IMR90	lung:	n/a	chr7:128171989-128171999 chr7:128171676-128171686 chr7:128171386-128171393
2	EBF1	chr7:128170249-128170861	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
3	EBF1	chr7:128170337-128170732	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
4	POLR2A	chr7:128170316-128172746	K562	blood:	n/a	n/a
5	NR2F2	chr7:128170056-128170683	K562	blood:	n/a	n/a
6	TAF1	chr7:128170278-128172669	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr7:128170121-128172665	SK-N-SH	brain:	n/a	n/a
8	HEY1	chr7:128169674-128172791	K562	blood:	n/a	chr7:128171836-128171851 chr7:128171698-128171713 chr7:128171495-128171510 chr7:128171252-128171267 chr7:128170601-128170616
9	POLR2A	chr7:128169986-128170919	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:128170164-128171283	GM12891	blood:	n/a	n/a
11	ELF1	chr7:128170375-128171886	GM12878	blood:	n/a	chr7:128171842-128171854 chr7:128171841-128171850 chr7:128171750-128171762 chr7:128171221-128171230 chr7:128170795-128170804 chr7:128171862-128171874 chr7:128171839-128171851 chr7:128170604-128170616 chr7:128171049-128171058 chr7:128171454-128171463
12	POLR2A	chr7:128170013-128170727	GM12891	blood:	n/a	n/a
13	POLR2A	chr7:128169768-128170726	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:128169696-128172876	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:128170360-128170609	ProgFib	skin:	n/a	n/a
16	POLR2A	chr7:128170274-128170651	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr7:128170374-128170881	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:128170244-128172822	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:128169583-128173092	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:128170258-128172778	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:60554358..60557025-chr7:128169837..128172731,3	MCF-7	breast:
2	chr7:128154968..128157377-chr7:128169188..128171020,2	K562	blood:
3	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr7:128095000..128097525-chr7:128170265..128171989,2	MCF-7	breast:
6	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
7	chr7:128094511..128096087-chr7:128168839..128171295,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL2B-1	chr7:128169669-128170972	XLOC_006240

Variant related genes	Relation type
ENSG00000242588	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000165055	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3326672	chr7:128169741-128173589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3345652	chr7:128170041-128172564	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3370991	chr7:128170166-128172864	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128170400	Weak transcription	Lung	lung
2	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
4	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
5	chr7:128169800-128170400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:128169800-128170400	Enhancers	Fetal Heart	heart
7	chr7:128169800-128170400	Enhancers	Pancreas	Pancrea
8	chr7:128169800-128170400	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:128169800-128170600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr7:128169800-128170600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:128169800-128170600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:128169800-128170600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr7:128169800-128170600	Enhancers	Fetal Brain Male	brain
14	chr7:128169800-128170600	Enhancers	Spleen	Spleen
15	chr7:128169800-128170600	Flanking Active TSS	Dnd41	blood
16	chr7:128169800-128171000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:128169800-128172400	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:128169800-128172600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:128169800-128173000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:128169800-128173200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:128169800-128173200	Active TSS	A549	lung
22	chr7:128169800-128173600	Active TSS	NHDF-Ad	bronchial
23	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:128169800-128174000	Active TSS	NHLF	lung
25	chr7:128170000-128170400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:128170000-128170400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:128170000-128170400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:128170000-128170400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:128170000-128170400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:128170000-128170400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr7:128170000-128170400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:128170000-128170400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:128170000-128170400	Weak transcription	Small Intestine	intestine
34	chr7:128170000-128170400	Flanking Active TSS	Hela-S3	cervix
35	chr7:128170000-128170400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:128170000-128170400	Flanking Active TSS	NHEK	skin
37	chr7:128170000-128170600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr7:128170000-128170600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:128170000-128170600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:128170000-128170600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:128170000-128170600	Flanking Active TSS	Fetal Lung	lung
42	chr7:128170000-128170600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:128170000-128170600	Flanking Active TSS	HUVEC	blood vessel
44	chr7:128170000-128170600	Flanking Active TSS	K562	blood
45	chr7:128170000-128173000	Active TSS	Brain Anterior Caudate	brain
46	chr7:128170000-128173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:128170000-128173200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:128170000-128173200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:128170000-128173200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:128170000-128173200	Active TSS	Osteobl	bone

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