Variant report

Variant	rs375669105
Chromosome Location	chr6:44237912-44237913
allele	G/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	REST	chr6:44237315-44239608	H1-neurons	neurons:	n/a	chr6:44238836-44238849 chr6:44238124-44238137 chr6:44238436-44238446 chr6:44237917-44237927
2	ZNF143	chr6:44237604-44237999	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:44237786-44239191	H1-neurons	neurons:	n/a	n/a
4	SIN3A	chr6:44237522-44238120	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:44237780-44237930	AG09319	gingival:	n/a	n/a
6	POLR2A	chr6:44237840-44239211	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
2	chr6:44237771..44241790-chr6:44264717..44266725,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272442	TF binding region
NFKBIE	TF binding region
TMEM151B	TF binding region
ENSG00000146232	Chromatin interaction
ENSG00000146221	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv3358306	chr6:44236999-44239947	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3508275	chr6:44237449-44239997	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3508276	chr6:44237449-44239997	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3395844	chr6:44237774-44239722	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44233600-44238000	Weak transcription	Right Atrium	heart
2	chr6:44234800-44238000	Enhancers	GM12878-XiMat	blood
3	chr6:44236200-44238400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr6:44236400-44238800	Weak transcription	Brain Substantia Nigra	brain
5	chr6:44236800-44238000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr6:44236800-44238400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr6:44236800-44238400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:44237000-44238200	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr6:44237000-44238200	Enhancers	HMEC	breast
10	chr6:44237000-44239200	Bivalent Enhancer	HUVEC	blood vessel
11	chr6:44237200-44238000	Bivalent Enhancer	HepG2	liver
12	chr6:44237200-44238000	Bivalent Enhancer	NHEK	skin
13	chr6:44237200-44238200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr6:44237200-44238200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr6:44237200-44238200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr6:44237200-44238400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:44237400-44238000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:44237400-44238000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr6:44237400-44238000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:44237400-44238000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:44237400-44238000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr6:44237600-44238000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr6:44237600-44238000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr6:44237600-44238000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:44237600-44238000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr6:44237600-44238000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr6:44237600-44238000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:44237600-44238000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:44237600-44238000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:44237600-44238000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr6:44237600-44238000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:44237600-44238000	Flanking Active TSS	Fetal Brain Male	brain
33	chr6:44237600-44238000	Flanking Active TSS	Fetal Brain Female	brain
34	chr6:44237600-44238000	Bivalent Enhancer	Placenta	Placenta
35	chr6:44237600-44238200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:44237600-44238200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr6:44237600-44238800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:44237600-44239000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:44237800-44238000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:44237800-44238000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:44237800-44238000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:44237800-44238000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
48	chr6:44237800-44238000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:44237800-44238000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:44237800-44238000	Flanking Active TSS	Brain Anterior Caudate	brain

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