Variant report

Variant	rs741144
Chromosome Location	chr19:40363245-40363246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12973382	1.00[CHB][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1846322	chr19:40350730-40404261	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1851593	chr19:40353368-40405115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1846009	chr19:40353983-40410533	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1066339	chr19:40357018-40427903	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1817068	chr19:40357271-40400950	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1060617	chr19:40358986-40393809	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv1815453	chr19:40360652-40404261	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv12245	chr19:40362630-40411824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40350400-40372200	Weak transcription	Dnd41	blood
3	chr19:40350600-40365200	Weak transcription	Placenta	Placenta
4	chr19:40352000-40364200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
7	chr19:40352600-40364000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:40353400-40366000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
10	chr19:40354600-40372200	Weak transcription	HepG2	liver
11	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40355800-40367200	Strong transcription	Primary T cells from cord blood	blood
13	chr19:40356200-40364400	Strong transcription	Fetal Intestine Small	intestine
14	chr19:40356200-40364600	Strong transcription	Colonic Mucosa	Colon
15	chr19:40356200-40365800	Strong transcription	Fetal Stomach	stomach
16	chr19:40358000-40364000	Weak transcription	Primary B cells from cord blood	blood
17	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40358600-40363800	Weak transcription	Right Atrium	heart
19	chr19:40359800-40369600	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:40360400-40367000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:40360600-40366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:40361000-40364400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:40361000-40372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:40361200-40366000	Weak transcription	Spleen	Spleen
25	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
26	chr19:40361400-40365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:40361600-40364600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr19:40362600-40363400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:40362600-40364400	Strong transcription	Gastric	stomach
30	chr19:40362800-40364000	Strong transcription	Stomach Mucosa	stomach
31	chr19:40363000-40363600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:40363200-40364800	Weak transcription	Primary T cells fromperipheralblood	blood

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