Variant report

Variant	rs138103487
Chromosome Location	chr1:180199710-180199711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180197757..180200322-chr1:180217302..180220148,2	K562	blood:
2	chr1:180123935..180126561-chr1:180199070..180201304,3	MCF-7	breast:
3	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:
4	chr1:180049598..180051873-chr1:180198863..180200788,2	MCF-7	breast:
5	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135837	Chromatin interaction
ENSG00000135847	Chromatin interaction
ENSG00000121454	Chromatin interaction
ENSG00000116260	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1002133	chr1:180127036-180230081	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1011134	chr1:180127616-180201104	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv999182	chr1:180127616-180236452	Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1005512	chr1:180127616-180242659	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1012816	chr1:180132688-180201104	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv1012145	chr1:180132688-180236452	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv466239	chr1:180145978-180268476	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv548345	chr1:180145978-180268476	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv1005793	chr1:180150400-180205202	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	nsv1005073	chr1:180152550-180250783	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv535219	chr1:180152550-180250783	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv498075	chr1:180179441-180278544	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv872575	chr1:180186713-180238243	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv3361812	chr1:180197754-180200702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
28	esv14202	chr1:180198652-180200893	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr1:180197400-180201000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:180197600-180201000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:180197800-180201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:180197800-180201200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:180198000-180200600	Bivalent/Poised TSS	NHEK	skin
8	chr1:180198000-180201000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:180198200-180200000	Flanking Bivalent TSS/Enh	Thymus	Thymus
10	chr1:180198200-180201000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr1:180198400-180199800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180198400-180200000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:180198400-180200000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:180198400-180200000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr1:180198400-180200000	Active TSS	Hela-S3	cervix
16	chr1:180198400-180200400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr1:180198400-180200400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:180198400-180200400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:180198400-180200800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:180198400-180200800	Active TSS	Aorta	Aorta
21	chr1:180198400-180200800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:180198400-180201000	Bivalent/Poised TSS	NHDF-Ad	bronchial
23	chr1:180198400-180201200	Active TSS	A549	lung
24	chr1:180198400-180201200	Active TSS	HSMMtube	muscle
25	chr1:180198600-180199800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:180198600-180199800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr1:180198600-180200800	Bivalent/Poised TSS	HepG2	liver
28	chr1:180198800-180199800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:180198800-180199800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:180198800-180199800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:180198800-180199800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:180198800-180199800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr1:180198800-180199800	Active TSS	Pancreas	Pancrea
34	chr1:180198800-180199800	Active TSS	Right Ventricle	heart
35	chr1:180198800-180200000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr1:180199000-180199800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:180199000-180199800	Active TSS	Lung	lung
38	chr1:180199200-180199800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr1:180199200-180200000	Bivalent Enhancer	Small Intestine	intestine
40	chr1:180199200-180201000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:180199200-180201000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr1:180199400-180199800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr1:180199400-180199800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr1:180199400-180199800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:180199400-180199800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr1:180199400-180199800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr1:180199400-180199800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr1:180199400-180199800	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr1:180199400-180199800	Flanking Active TSS	HSMM	muscle
50	chr1:180199400-180200000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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