Variant report

Variant	rs137996916
Chromosome Location	chr1:213005108-213005109
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	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv549149	chr1:212997385-213009657	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv549150	chr1:212999701-213011812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv549151	chr1:213002088-213007296	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv549152	chr1:213002088-213007465	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv549153	chr1:213002088-213007542	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv549154	chr1:213002088-213009469	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv549155	chr1:213002088-213009657	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2421907	chr1:213002088-213010436	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv549156	chr1:213002088-213011812	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv549157	chr1:213002088-213018125	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv8791	chr1:213002097-213014844	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3321128	chr1:213002226-213013781	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv826564	chr1:213002232-213013565	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv3321127	chr1:213002235-213013744	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	esv3321126	chr1:213002278-213013753	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	esv3321130	chr1:213002280-213013711	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv3349041	chr1:213002330-213013685	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv3321131	chr1:213002369-213013669	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv549158	chr1:213003428-213007542	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	nsv549159	chr1:213003428-213008227	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	nsv549160	chr1:213003428-213009469	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
26	nsv549161	chr1:213003428-213009657	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
27	nsv549162	chr1:213003428-213011812	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
28	nsv549163	chr1:213003428-213018125	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
29	esv2763825	chr1:213004455-213014453	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
30	esv10902	chr1:213004863-213013140	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
31	nsv514041	chr1:213004993-213010369	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
32	nsv549164	chr1:213005012-213007532	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
33	nsv549165	chr1:213005012-213008227	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
34	nsv549166	chr1:213005012-213009469	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
35	nsv549167	chr1:213005012-213009657	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
36	esv1830149	chr1:213005012-213010436	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
37	nsv549168	chr1:213005012-213011812	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
38	nsv549169	chr1:213005012-213018125	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
39	nsv441735	chr1:213005015-213010436	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:213001400-213005800	Weak transcription	A549	lung
4	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
5	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213002800-213006000	Weak transcription	HepG2	liver
10	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:213005000-213005200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:213005000-213005200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:213005000-213005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:213005000-213005200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:213005000-213005200	Enhancers	Adipose Nuclei	Adipose
20	chr1:213005000-213005400	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:213005000-213005400	Enhancers	K562	blood
22	chr1:213005000-213005400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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