Variant report

Variant	rs189423916
Chromosome Location	chr7:6747316-6747317
allele	C/G
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	TBL1XR1	chr7:6746444-6747318	GM12878	blood:	n/a	n/a
2	NRF1	chr7:6746197-6747407	SK-N-SH	brain:	n/a	chr7:6746589-6746600 chr7:6746623-6746632 chr7:6746621-6746635 chr7:6746591-6746600 chr7:6746620-6746631 chr7:6746589-6746598 chr7:6746443-6746452 chr7:6746588-6746599 chr7:6746586-6746600 chr7:6746445-6746454 chr7:6746589-6746603 chr7:6746621-6746632

No.	Distal block	Cell Line	Cell type
1	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
2	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
3	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
4	chr7:6729955..6731866-chr7:6746781..6748682,2	MCF-7	breast:
5	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
6	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
7	chr2:179315296..179317868-chr7:6745682..6748008,2	MCF-7	breast:
8	chr7:6745463..6748475-chr7:6767656..6769994,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6746704-6748672	NONHSAT119061

Variant related genes	Relation type
ZNF12	TF binding region
PMS2CL	TF binding region
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000265245	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv8038	chr7:6744717-6748111	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6745000-6747400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:6745000-6747600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:6745200-6747400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:6745200-6747400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:6745200-6747400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:6745400-6747600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:6745600-6747400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:6745600-6747400	Active TSS	Colon Smooth Muscle	Colon
9	chr7:6745800-6747400	Active TSS	Brain Germinal Matrix	brain
10	chr7:6745800-6747400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:6746000-6747400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:6746000-6747400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:6746200-6747400	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr7:6746600-6747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:6746600-6747400	Active TSS	Fetal Brain Male	brain
16	chr7:6746800-6747400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:6746800-6747400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr7:6746800-6747400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:6746800-6747400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:6746800-6747400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:6746800-6747400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:6746800-6747400	Flanking Active TSS	Liver	Liver
23	chr7:6746800-6747400	Flanking Active TSS	Dnd41	blood
24	chr7:6746800-6747400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr7:6746800-6747400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:6746800-6747600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:6746800-6747600	Flanking Active TSS	HepG2	liver
28	chr7:6747000-6747400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:6747000-6747400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:6747000-6747400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:6747000-6747400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:6747000-6747400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr7:6747000-6747400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:6747000-6747400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr7:6747000-6747400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr7:6747000-6747400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:6747000-6747400	Flanking Active TSS	Fetal Brain Female	brain
38	chr7:6747000-6747400	Enhancers	Small Intestine	intestine
39	chr7:6747000-6747400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:6747000-6768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:6747200-6747400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:6747200-6747400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr7:6747200-6747400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:6747200-6747400	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:6747200-6747400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:6747200-6747400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr7:6747200-6747400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:6747200-6747400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:6747200-6747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:6747200-6747400	Enhancers	Cortex derived primary cultured neurospheres	brain

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