Variant report

Variant	rs2956675
Chromosome Location	chr7:128170058-128170059
allele	A/C
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	NR2F2	chr7:128170056-128170683	K562	blood:	n/a	n/a
2	HEY1	chr7:128169674-128172791	K562	blood:	n/a	chr7:128171836-128171851 chr7:128171698-128171713 chr7:128171495-128171510 chr7:128171252-128171267 chr7:128170601-128170616
3	POLR2A	chr7:128169986-128170919	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:128169713-128170095	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:128170013-128170727	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:128169768-128170726	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:128169696-128172876	GM12878	blood:	n/a	n/a
8	CTCF	chr7:128170039-128170086	MCF-7	breast:	n/a	chr7:128170056-128170072
9	POLR2A	chr7:128169583-128173092	H1-hESC	embryonic stem cell:	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	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
6	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
ENSG00000146872	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	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	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128170400	Weak transcription	Lung	lung
2	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
4	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128164400-128170200	Weak transcription	Colonic Mucosa	Colon
6	chr7:128164400-128170200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:128164400-128170200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:128164400-128170200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:128166600-128170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128169200-128170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:128169600-128170200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:128169600-128170200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:128169600-128170200	Enhancers	Fetal Muscle Leg	muscle
16	chr7:128169600-128170200	Enhancers	Placenta	Placenta
17	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
18	chr7:128169800-128170200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:128169800-128170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:128169800-128170200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:128169800-128170200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:128169800-128170200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:128169800-128170200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:128169800-128170200	Enhancers	Primary B cells from cord blood	blood
25	chr7:128169800-128170200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:128169800-128170200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:128169800-128170200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:128169800-128170200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:128169800-128170200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:128169800-128170200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:128169800-128170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:128169800-128170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:128169800-128170200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:128169800-128170200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:128169800-128170200	Enhancers	Brain Angular Gyrus	brain
36	chr7:128169800-128170200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:128169800-128170200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:128169800-128170200	Enhancers	Fetal Stomach	stomach
39	chr7:128169800-128170200	Enhancers	Left Ventricle	heart
40	chr7:128169800-128170200	Enhancers	Right Atrium	heart
41	chr7:128169800-128170200	Enhancers	Thymus	Thymus
42	chr7:128169800-128170200	Enhancers	HepG2	liver
43	chr7:128169800-128170200	Enhancers	HSMM	muscle
44	chr7:128169800-128170400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:128169800-128170400	Enhancers	Fetal Heart	heart
46	chr7:128169800-128170400	Enhancers	Pancreas	Pancrea
47	chr7:128169800-128170400	Flanking Active TSS	GM12878-XiMat	blood
48	chr7:128169800-128170600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:128169800-128170600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:128169800-128170600	Flanking Active TSS	Adipose Nuclei	Adipose

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