Variant report

Variant	rs192712550
Chromosome Location	chr1:9848850-9848851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9847449..9849226-chr1:9882664..9884165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1848817	chr1:9842576-9855529	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1821566	chr1:9842576-9856687	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv827475	chr1:9846555-9855119	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv827586	chr1:9846555-9857371	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv498662	chr1:9846650-9856696	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv827697	chr1:9846837-9855347	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1850594	chr1:9847032-9853447	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1815656	chr1:9847032-9856434	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1817934	chr1:9847032-9856434	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1818972	chr1:9847032-9856434	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1823165	chr1:9847032-9856434	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1823318	chr1:9847032-9856434	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1824497	chr1:9847032-9856434	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1824898	chr1:9847032-9856434	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1842948	chr1:9847032-9856434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1843596	chr1:9847032-9856434	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1846628	chr1:9847032-9856434	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1851002	chr1:9847032-9856434	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv545378	chr1:9847032-9856434	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1817417	chr1:9847032-9856687	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1819093	chr1:9847032-9856826	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1824318	chr1:9847032-9856826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv1845506	chr1:9847032-9856826	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv1847729	chr1:9847032-9856826	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1822763	chr1:9847032-9864493	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv545379	chr1:9847762-9856687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
11	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
13	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:9833800-9849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:9833800-9853400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:9834000-9852400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:9836000-9849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:9836800-9849000	Weak transcription	Fetal Stomach	stomach
26	chr1:9836800-9852000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:9836800-9852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:9836800-9852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:9838000-9854400	Weak transcription	Lung	lung
30	chr1:9839800-9853400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:9841000-9852200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:9841000-9852200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:9841000-9852400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:9843000-9864400	Weak transcription	Stomach Mucosa	stomach
35	chr1:9843200-9852000	Weak transcription	HUVEC	blood vessel
36	chr1:9843200-9852200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:9843400-9852200	Weak transcription	Hela-S3	cervix
38	chr1:9843400-9858400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:9844600-9849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:9844600-9852200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:9844800-9849200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:9844800-9852400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:9845000-9849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:9845000-9852600	Weak transcription	K562	blood
45	chr1:9845600-9849400	Enhancers	Fetal Thymus	thymus
46	chr1:9845800-9858200	Weak transcription	HMEC	breast
47	chr1:9846000-9852200	Weak transcription	NHEK	skin
48	chr1:9846200-9852200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:9846200-9852400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:9846400-9849000	Enhancers	Primary T cells fromperipheralblood	blood

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